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Abnormalities, Multiple
Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism.
Adenocarcinoma
Copper as a target for prostate cancer therapeutics: copper-ionophore pharmacology and altering systemic copper distribution.
Adenocarcinoma
Expression of ATP7B in human gastric cardiac carcinomas in comparison with distal gastric carcinomas.
Adenocarcinoma
Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.
Adenocarcinoma
Relevance of copper transporter 1 and organic cation transporters 1-3 for oxaliplatin uptake and drug resistance in colorectal cancer cells.
Adenocarcinoma of Lung
Effects of Salvia miltiorrhiza extract on lung adenocarcinoma.
Adenocarcinoma of Lung
[Expression of Copper-Transporting P-Type Adenosine Triphosphatase (ATP7B) Correlates with Cisplatin-Resistance in Human Lung Adenocarcinoma Cell Line A549.]
Adenoviridae Infections
Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B.
Albinism, Oculocutaneous
[Hypomelanoses transmitted from generation to generation].
Alzheimer Disease
Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.
Alzheimer Disease
ATP7B variants as modulators of copper dyshomeostasis in Alzheimer's disease.
Alzheimer Disease
Copper Hypothesis in the Missing Hereditability of Sporadic Alzheimer's Disease: ATP7B Gene as Potential Harbor of Rare Variants.
Alzheimer Disease
Copper Imbalance in Alzheimer's Disease: Meta-Analysis of Serum, Plasma, and Brain Specimens, and Replication Study Evaluating ATP7B Gene Variants.
Alzheimer Disease
Erratum to: Non-Ceruloplasmin Copper Distincts Subtypes in Alzheimer's Disease: a Genetic Study of ATP7B Frequency.
Alzheimer Disease
Genetic variability in copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with Alzheimer's disease in a Chinese population.
Alzheimer Disease
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Alzheimer Disease
In Vivo Modeling of the Pathogenic Effect of Copper Transporter Mutations That Cause Menkes and Wilson Diseases, Motor Neuropathy, and Susceptibility to Alzheimer's Disease.
Alzheimer Disease
Intronic rs2147363 Variant in ATP7B Transcription Factor-Binding Site Associated with Alzheimer's Disease.
Alzheimer Disease
Linkage Disequilibrium and haplotype analysis of ATP7B gene in Alzheimer's disease.
Alzheimer Disease
Non-ceruloplasmin bound copper and ATP7B gene variants in Alzheimer's disease.
Alzheimer Disease
Non-Ceruloplasmin Copper Distincts Subtypes in Alzheimer's Disease: a Genetic Study of ATP7B Frequency.
Alzheimer Disease
Specific recognition, intracellular assay and detoxification of fluorescent curcumin derivative for copper ions.
Alzheimer Disease
Wilson's disease and other neurological copper disorders.
Amyotrophic Lateral Sclerosis
CRISPR-mediated gene correction links the ATP7A M1311V mutations with amyotrophic lateral sclerosis pathogenesis in one individual.
Amyotrophic Lateral Sclerosis
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Anemia
Genomic organization of ATOX1, a human copper chaperone.
Anemia, Hemolytic
Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
Aortic Aneurysm
Bone marrow from blotchy mice is dispensable to regulate blood copper and aortic pathologies but required for inflammatory mediator production in LDLR-deficient mice during chronic angiotensin II infusion.
Aortic Aneurysm
Copper Transporter ATP7A (Copper-Transporting P-Type ATPase/Menkes ATPase) Limits Vascular Inflammation and Aortic Aneurysm Development: Role of MicroRNA-125b.
Ataxia
Autonomous requirements of the Menkes disease protein in the nervous system.
Atherosclerosis
Participation of ATP7A in macrophage mediated oxidation of low density lipoprotein.
Atherosclerosis
Unexpected role of the copper transporter ATP7A in PDGF-induced vascular smooth muscle cell migration.
Brain Diseases
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
Breast Neoplasms
Ammonium tetrathiomolybdate treatment targets the copper transporter ATP7A and enhances sensitivity of breast cancer to cisplatin.
Breast Neoplasms
Association of drug transporter expression with mortality and progression-free survival in stage IV head and neck squamous cell carcinoma.
Breast Neoplasms
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Breast Neoplasms
ATPase copper transporter A, negatively regulated by miR-148a-3p, contributes to cisplatin resistance in breast cancer cells.
Breast Neoplasms
Copper transporter 1 affinity as a delivery strategy to improve the cytotoxic profile of rationally designed copper(II) complexes for cancer treatment.
Breast Neoplasms
Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma.
Breast Neoplasms
Detection of increased 64Cu uptake by human copper transporter 1 gene overexpression using PET with 64CuCl2 in human breast cancer xenograft model.
Burkitt Lymphoma
Characterization of colorectal-cancer-related cDNA clones obtained by subtractive hybridization screening.
Carcinogenesis
A Role for The ATP7A Copper Transporter in Tumorigenesis and Cisplatin Resistance.
Carcinogenesis
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Carcinogenesis
Copper Promotes Tumorigenesis by Activating the PDK1-AKT Oncogenic Pathway in a Copper Transporter 1 Dependent Manner.
Carcinogenesis
Effects of Salvia miltiorrhiza extract on lung adenocarcinoma.
Carcinogenesis
Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy.
Carcinogenesis
Role of Atp7b gene in spontaneous and N-diethylnitrosamine-induced carcinogenesis in a new congenic strain, WKAH.C-Atp7b rats.
Carcinoma
A Chinese herbal Formula, Chang-Wei-Qin, Synergistically Enhances Antitumor Effect of Oxaliplatin.
Carcinoma
Altered localisation of the copper efflux transporters ATP7A and ATP7B associated with cisplatin resistance in human ovarian carcinoma cells.
Carcinoma
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Carcinoma
ATP7B antisense oligodeoxynucleotides increase the cisplatin sensitivity of human ovarian cancer cell line SKOV3ipl.
Carcinoma
ATPase copper transporter A, negatively regulated by miR-148a-3p, contributes to cisplatin resistance in breast cancer cells.
Carcinoma
Confocal microscopic analysis of the interaction between cisplatin and the copper transporter ATP7B in human ovarian carcinoma cells.
Carcinoma
Copper-transporting P-type adenosine triphosphatase (ATP7B) as a cisplatin based chemoresistance marker in ovarian carcinoma: comparative analysis with expression of MDR1, MRP1, MRP2, LRP and BCRP.
Carcinoma
Copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with cisplatin resistance.
Carcinoma
Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma.
Carcinoma
Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human gastric carcinoma.
Carcinoma
Editor's Note: Therapeutic Targeting of ATP7B in Ovarian Carcinoma.
Carcinoma
Effects of SLC31A1 and ATP7B polymorphisms on platinum resistance in patients with esophageal squamous cell carcinoma receiving neoadjuvant chemoradiotherapy.
Carcinoma
Enhanced delivery of cisplatin to intraperitoneal ovarian carcinomas mediated by the effects of bortezomib on the human copper transporter 1.
Carcinoma
Expression and cisplatin sensitivity of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinoma cell lines.
Carcinoma
Expression of ATP7A in esophageal squamous cell carcinoma (ESCC) and its clinical significance.
Carcinoma
Expression of ATP7B in human gastric cardiac carcinomas in comparison with distal gastric carcinomas.
Carcinoma
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a chemoresistance marker in human oral squamous cell carcinoma treated with cisplatin.
Carcinoma
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a chemoresistance marker in human solid carcinomas.
Carcinoma
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a prognostic factor in human endometrial carcinoma.
Carcinoma
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) correlates with cisplatin resistance in human non-small cell lung cancer xenografts.
Carcinoma
Expression of copper-transporting P-type adenosine triphosphatase in human esophageal carcinoma.
Carcinoma
Gene expression of membrane transporters: Importance for prognosis and progression of ovarian carcinoma.
Carcinoma
Gene expression profiling for analysis acquired oxaliplatin resistant factors in human gastric carcinoma TSGH-S3 cells: The role of IL-6 signaling and Nrf2/AKR1C axis identification.
Carcinoma
Genetic polymorphism of copper transporter protein 1 is related to platinum resistance in Chinese non-small cell lung carcinoma patients.
Carcinoma
Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy.
Carcinoma
Increase in expression of the copper transporter ATP7A during platinum drug-based treatment is associated with poor survival in ovarian cancer patients.
Carcinoma
Increased expression of the copper efflux transporter ATP7A mediates resistance to cisplatin, carboplatin, and oxaliplatin in ovarian cancer cells.
Carcinoma
Is ATP7B a predictive marker in patients with ovarian carcinoma treated with platinum-taxane combination chemotherapy?
Carcinoma
Mutation analysis of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinomas.
Carcinoma
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
Carcinoma
Prognostic value of copper transporter 1 expression in patients with clear cell renal cell carcinoma.
Carcinoma
Prognostic value of the Cu-transporting ATPase in ovarian carcinoma patients receiving cisplatin-based chemotherapy.
Carcinoma
Relevance of copper transporter 1 for cisplatin resistance in human ovarian carcinoma cells.
Carcinoma
Synthetic Lethality Screening Identifies FDA-Approved Drugs that Overcome ATP7B-Mediated Tolerance of Tumor Cells to Cisplatin.
Carcinoma
The copper export pump ATP7B modulates the cellular pharmacology of carboplatin in ovarian carcinoma cells.
Carcinoma
Therapeutic Targeting of ATP7B in Ovarian Carcinoma.
Carcinoma
[Inhibition of Copper Transporter-1 by Ammonium Tetrathiocarbolybdate in the Treatment of Pancreatic Cancer].
Carcinoma, Endometrioid
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a prognostic factor in human endometrial carcinoma.
Carcinoma, Hepatocellular
?-elemene sensitizes hepatocellular carcinoma cells to oxaliplatin by preventing oxaliplatin-induced degradation of copper transporter 1.
Carcinoma, Hepatocellular
A high-affinity (Ca2+ + Mg2+)-ATPase in plasma membranes of rat ascites hepatoma AH109A cells.
Carcinoma, Hepatocellular
ATP7B mediates vesicular sequestration of copper: insight into biliary copper excretion.
Carcinoma, Hepatocellular
Biochemical regulation and structural analysis of copper-transporting ATPase in a human hepatoma cell line for Wilson disease.
Carcinoma, Hepatocellular
Copper does not alter the intracellular distribution of ATP7B, a copper-transporting ATPase.
Carcinoma, Hepatocellular
Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion.
Carcinoma, Hepatocellular
Core domain mutant Y220C of p53 protein has a key role in copper homeostasis in case of free fatty acids overload.
Carcinoma, Hepatocellular
Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
Carcinoma, Hepatocellular
Downregulation of hepatic multi-drug resistance protein 1 (MDR1) after copper exposure.
Carcinoma, Hepatocellular
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) in human hepatocellular carcinoma.
Carcinoma, Hepatocellular
Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
Carcinoma, Hepatocellular
Functional interactions of Cu-ATPase ATP7B with cisplatin and the role of ATP7B in the resistance of cells to the drug.
Carcinoma, Hepatocellular
Isolation and characterization of the plasma membranes from rat ascites hepatomas and from normal rat livers, including newborn, regenerating, and adult livers.
Carcinoma, Hepatocellular
Mouse extrahepatic hepatoma detected on MicroPET using copper (II)-64 chloride uptake mediated by endogenous mouse copper transporter 1.
Carcinoma, Hepatocellular
Overexpressed ATP7B protects mesenchymal stem cells from toxic copper.
Carcinoma, Hepatocellular
Role of ATP7B in biliary copper excretion in a human hepatoma cell line and normal rat hepatocytes.
Carcinoma, Hepatocellular
Roles of COMMD1 in stability and recruitment of the copper-transporting ATPase in mouse hepatoma cell line.
Carcinoma, Hepatocellular
The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell line.
Carcinoma, Hepatocellular
Thiamine supplementation attenuated hepatocellular carcinoma in the Atp7b mouse model of Wilson's disease.
Carcinoma, Lewis Lung
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Carcinoma, Non-Small-Cell Lung
Association of ATP7A expression and in vitro sensitivity to cisplatin in non-small cell lung cancer.
Carcinoma, Non-Small-Cell Lung
ATP7B expression is associated with in vitro sensitivity to cisplatin in non-small cell lung cancer.
Carcinoma, Non-Small-Cell Lung
ATP7B rs9535826 is associated with gastrointestinal toxicity of platinum-based chemotherapy in nonsmall cell lung cancer patients.
Carcinoma, Non-Small-Cell Lung
Clinical outcome of cisplatin-based chemotherapy is associated with the polymorphisms of GSTP1 and XRCC1 in advanced non-small cell lung cancer patients.
Carcinoma, Non-Small-Cell Lung
Copper transporter CTR1 expression and tissue platinum concentration in non-small cell lung cancer.
Carcinoma, Non-Small-Cell Lung
Copper-transporting P-type adenosine triphosphatase (ATP7A) is associated with platinum-resistance in non-small cell lung cancer (NSCLC).
Carcinoma, Non-Small-Cell Lung
Correlation of Expression Levels of Copper Transporter 1 and Thymidylate Synthase with Treatment Outcomes in Patients with Advanced Non-small Cell Lung Cancer Treated with S-1/Carboplatin Doublet Chemotherapy
Carcinoma, Non-Small-Cell Lung
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) correlates with cisplatin resistance in human non-small cell lung cancer xenografts.
Carcinoma, Non-Small-Cell Lung
Expression of the copper transporters hCtr1, ATP7A and ATP7B is associated with the response to chemotherapy and survival time in patients with resected non-small cell lung cancer.
Carcinoma, Non-Small-Cell Lung
Gene expression and single nucleotide polymorphism of ATP7B are associated with platinum-based chemotherapy response in non-small cell lung cancer patients.
Carcinoma, Non-Small-Cell Lung
Genetic polymorphism of copper transporter protein 1 is related to platinum resistance in Chinese non-small cell lung carcinoma patients.
Carcinoma, Non-Small-Cell Lung
Impact of the Copper Transporter Protein 1 (CTR1) Polymorphism on Adverse Events among Advanced NonSmall Cell Lung Cancer Patients Treated with a Carboplatin/Gemcitabine Regimen.
Carcinoma, Non-Small-Cell Lung
MiR-495 enhances the sensitivity of non-small cell lung cancer cells to platinum by modulation of copper-transporting P-type adenosine triphosphatase A (ATP7A).
Carcinoma, Non-Small-Cell Lung
Predictive and prognostic value of human copper transporter 1 (hCtr1) in patients with stage III non-small-cell lung cancer receiving first-line platinum-based doublet chemotherapy.
Carcinoma, Ovarian Epithelial
Association between polymorphisms in CTR1, CTR2, ATP7A, and ATP7B and platinum resistance in epithelial ovarian cancer.
Carcinoma, Ovarian Epithelial
Association of copper transporter expression with platinum resistance in epithelial ovarian cancer.
Carcinoma, Ovarian Epithelial
Core fucosylation of copper transporter 1 plays a crucial role in cisplatin-resistance of epithelial ovarian cancer by regulating drug uptake.
Carcinoma, Ovarian Epithelial
Predictive value of ATP7b, BRCA1, BRCA2, PARP1, UIMC1 (RAP80), HOXA9, DAXX, TXN (TRX1), THBS1 (TSP1) and PRR13 (TXR1) genes in patients with epithelial ovarian cancer who received platinum-taxane first-line therapy.
Carcinoma, Pancreatic Ductal
[Inhibition of Copper Transporter-1 by Ammonium Tetrathiocarbolybdate in the Treatment of Pancreatic Cancer].
Carcinoma, Renal Cell
Prognostic value of copper transporter 1 expression in patients with clear cell renal cell carcinoma.
Carcinoma, Squamous Cell
Cisplatin sensitivity of oral squamous carcinoma cells is regulated by Na+,K+-ATPase activity rather than copper-transporting P-type ATPases, ATP7A and ATP7B.
Carcinoma, Squamous Cell
Copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with cisplatin resistance.
Cardiomegaly
Homocysteine induces cardiac hypertrophy by up-regulating ATP7a expression.
Cardiovascular Diseases
The P-type ATPase transporter ATP7A promotes angiogenesis by limiting autophagic degradation of VEGFR2.
Cerebellar Diseases
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Charcot-Marie-Tooth Disease
ATP7A-related copper transport diseases-emerging concepts and future trends.
Charcot-Marie-Tooth Disease
SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.
Chediak-Higashi Syndrome
[Hypomelanoses transmitted from generation to generation].
Cholera
Golgi membranes from liver express an ATPase with femtomolar copper affinity, inhibited by cAMP-dependent protein kinase.
Choriocarcinoma
Expression, localisation and hormone regulation of the human copper transporter hCTR1 in placenta and choriocarcinoma Jeg-3 cells.
Choroideremia
22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.
Colonic Neoplasms
Copper transport systems are involved in multidrug resistance and drug transport.
Colonic Neoplasms
Copper-transporting P-type ATPase, ATP7A, confers multidrug resistance and its expression is related to resistance to SN-38 in clinical colon cancer.
Colonic Neoplasms
Interactions of cisplatin and the copper transporter CTR1 in human colon cancer cells.
Colorectal Neoplasms
Copper transporter 1 in human colorectal cancer cell lines: Effects of endogenous and modified expression on oxaliplatin cytotoxicity.
Colorectal Neoplasms
Elesclomol induces copper-dependent ferroptosis in colorectal cancer cells via degradation of ATP7A.
Colorectal Neoplasms
Expression analysis of genes involved in oxaliplatin response and development of oxaliplatin-resistant HT29 colon cancer cells.
Colorectal Neoplasms
Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.
Colorectal Neoplasms
Relevance of copper transporter 1 and organic cation transporters 1-3 for oxaliplatin uptake and drug resistance in colorectal cancer cells.
Colorectal Neoplasms
Targeting copper metabolism to defeat KRAS-driven colorectal cancer.
Colorectal Neoplasms
Transcriptome analysis of copper homeostasis genes reveals coordinated upregulation of SLC31A1,SCO1, and COX11 in colorectal cancer.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.
Corneal Diseases
[Present status of diagnosis and treatment of hepatolenticular degeneration].
Craniosynostoses
Trigonocephaly and Wilson's disease in two siblings.
Cystic Fibrosis
Calcium and sodium transport processes in patients with cystic fibrosis. I. A specific decrease in Mg2+-dependent, Ca2+-adenosine triphosphatase activity in erythrocyte membranes from cystic fibrosis patients.
Cystic Fibrosis
Calcium-ATPase activity in cystic fibrosis erythrocyte membranes: decreased activity in patients with pancreatic insufficiency.
Diabetes Mellitus
Akt2 (Protein Kinase B Beta) Stabilizes ATP7A, a Copper Transporter for Extracellular Superoxide Dismutase, in Vascular Smooth Muscle: Novel Mechanism to Limit Endothelial Dysfunction in Type 2 Diabetes Mellitus.
Diabetes Mellitus, Type 1
Akt2 (Protein Kinase B Beta) Stabilizes ATP7A, a Copper Transporter for Extracellular Superoxide Dismutase, in Vascular Smooth Muscle: Novel Mechanism to Limit Endothelial Dysfunction in Type 2 Diabetes Mellitus.
Diabetes Mellitus, Type 2
Akt2 (Protein Kinase B Beta) Stabilizes ATP7A, a Copper Transporter for Extracellular Superoxide Dismutase, in Vascular Smooth Muscle: Novel Mechanism to Limit Endothelial Dysfunction in Type 2 Diabetes Mellitus.
dopamine beta-monooxygenase deficiency
Dopamine beta-hydroxylase deficiency associated with mutations in a copper transporter gene.
dopamine beta-monooxygenase deficiency
Genomic organization of ATOX1, a human copper chaperone.
Dwarfism
Study on pathogenic genes of dwarfism disease by next-generation sequencing.
Dystonia
Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders.
Dystonia
Changes of copper-transporting proteins and ceruloplasmin in the lentiform nuclei in primary adult-onset dystonia.
Dystonia
Novel Mutation in CACNA1A Associated with Activity-Induced Dystonia, Cervical Dystonia, and Mild Ataxia.
Dystonia
The promoter region of the Menkes gene ATP7A is not altered in focal or generalized dystonia.
Dystonia
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
Dystonia Musculorum Deformans
22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.
Dystonic Disorders
Changes of copper-transporting proteins and ceruloplasmin in the lentiform nuclei in primary adult-onset dystonia.
Dystonic Disorders
Reduction of Menkes mRNA and copper in leukocytes of patients with primary adult-onset dystonia.
Endometrial Neoplasms
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a prognostic factor in human endometrial carcinoma.
Endometrial Neoplasms
Prognostic value of organic anion transporting polypeptide 1B3 and copper transporter 1 expression in endometrial cancer patients treated with paclitaxel and carboplatin.
Epilepsy
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
Epilepsy
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Epilepsy
Phenotypic convergence of Menkes and Wilson disease.
Esophageal Neoplasms
Association between ABCC2 polymorphism and hematological toxicity in patients with esophageal cancer receiving platinum plus 5-fluorouracil therapy.
Esophageal Squamous Cell Carcinoma
Effects of SLC31A1 and ATP7B polymorphisms on platinum resistance in patients with esophageal squamous cell carcinoma receiving neoadjuvant chemoradiotherapy.
Esophageal Squamous Cell Carcinoma
Expression of ATP7A in esophageal squamous cell carcinoma (ESCC) and its clinical significance.
Essential Tremor
Wilson's disease presenting in a family with an apparent dominant history of tremor.
Exocrine Pancreatic Insufficiency
Calcium-ATPase activity in cystic fibrosis erythrocyte membranes: decreased activity in patients with pancreatic insufficiency.
Familial Exudative Vitreoretinopathies
The cytosolic chaperone ?-crystallin B rescues folding and compartmentalization of misfolded multispan transmembrane proteins.
Fatty Liver
Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.
Fatty Liver
Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice.
Friedreich Ataxia
Mitochondria and degenerative disorders.
Genetic Diseases, Inborn
A case of Wilson disease with the ATP7B mutation presenting movement disorders.
Genetic Diseases, Inborn
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.
Genetic Diseases, Inborn
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Genetic Diseases, Inborn
ATP7B variant c.1934T?>?G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Genetic Diseases, Inborn
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Genetic Diseases, Inborn
Binding of copper(I) by the Wilson disease protein and its copper chaperone.
Genetic Diseases, Inborn
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
Genetic Diseases, Inborn
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Genetic Diseases, Inborn
Comprehensive and comparative exploration of the Atp7b-/- mouse plasma proteome.
Genetic Diseases, Inborn
Copper(I)-binding properties of de-coppering drugs for the treatment of Wilson disease. ?-Lipoic acid as a potential anti-copper agent.
Genetic Diseases, Inborn
Currently Clinical Views on Genetics of Wilson's Disease.
Genetic Diseases, Inborn
Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice.
Genetic Diseases, Inborn
Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene.
Genetic Diseases, Inborn
Hepatic drug-metabolizing enzymes and drug transporters in Wilson's disease patients with liver failure.
Genetic Diseases, Inborn
Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation.
Genetic Diseases, Inborn
Metabolic disposition of WTX101 (bis-choline tetrathiomolybdate) in a rat model of Wilson disease.
Genetic Diseases, Inborn
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
Genetic Diseases, Inborn
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
Genetic Diseases, Inborn
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Genetic Diseases, Inborn
Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
Genetic Diseases, Inborn
Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease.
Genetic Diseases, Inborn
Regulation of heme synthesis and proteasomal activity by copper: possible implications for Wilson's disease.
Genetic Diseases, Inborn
Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.
Genetic Diseases, Inborn
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
Genetic Diseases, Inborn
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
Genetic Diseases, Inborn
The SLC31 (Ctr) copper transporter family.
Genetic Diseases, Inborn
Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.
Genetic Diseases, Inborn
Wilson disease in offspring of affected patients: report of four French families.
Genetic Diseases, Inborn
Wilson's Disease: A Review for the General Pediatrician.
Genetic Diseases, Inborn
[Biological regulation of copper and selective removal of copper: therapy for Wilson disease and its molecular mechanism]
Genetic Diseases, Inborn
[Wilson's disease - a case report].
Glioblastoma
ATP7B expression in human glioblastoma is related to temozolomide resistance.
Glioblastoma
The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.
Glucosephosphate Dehydrogenase Deficiency
Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.
Heart Neoplasms
Expression of ATP7B in human gastric cardiac carcinomas in comparison with distal gastric carcinomas.
Hemochromatosis
Compound overload of copper and iron in patients with Wilson's disease.
Hepatitis
Absence of linkage between radiosensitivity and the predisposing atp7b gene mutation for heritable hepatitis in the LEC rat.
Hepatitis
Coffee consumption delays the hepatitis and suppresses the inflammation related gene expression in the Long-Evans Cinnamon rat.
Hepatitis
Copper balance and ceruloplasmin in chronic hepatitis in a Wilson disease animal model, LEC rats.
Hepatitis
Hepatocellular carcinoma induction in LEC rats by a low dose of 2-amino-3,8-dimethylimidazo[4,5-f]quinoxaline.
Hepatitis
No prevention of liver and kidney tumors in Long-Evans Cinnamon rats by dietary curcumin, but inhibition at other sites and of metastases.
Hepatitis
The WD gene for Wilson's disease links to the hepatitis of LEC rats.
Hepatitis, Chronic
Predicting copper toxicosis: relationship between the ATP7A and ATP7B gene mutations and hepatic copper quantification in dogs.
Hepatoblastoma
Copper resistant human hepatoblastoma mutant cell lines without metallothionein induction overexpress ATP7B.
Hepatolenticular Degeneration
"Acquired" hepatocerebral degeneration in a patient heterozygote carrier for a novel mutation in ATP7B gene.
Hepatolenticular Degeneration
24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.
Hepatolenticular Degeneration
A 6-year-old boy with Wilson disease-A diagnostic dilemma.
Hepatolenticular Degeneration
A case of Wilson disease with the ATP7B mutation presenting movement disorders.
Hepatolenticular Degeneration
A cellular model for Wilson's disease using patient-derived induced pluripotent stem cells revealed aberrant ?-catenin pathway during osteogenesis.
Hepatolenticular Degeneration
A comparison of the mutation spectra of Menkes disease and Wilson disease.
Hepatolenticular Degeneration
A Comprehensive Analysis and Splicing Characterization of Naturally Occurring Synonymous Variants in the ATP7B Gene.
Hepatolenticular Degeneration
A Gene Therapy Approach to Improve Copper Metabolism and Prevent Liver Damage in a Mouse Model of Wilson Disease.
Hepatolenticular Degeneration
A genetic study of Wilson's disease in the United Kingdom.
Hepatolenticular Degeneration
A glimpse into the regulation of the Wilson disease protein, ATP7B, sheds light on the complexity of mammalian apical trafficking pathways.
Hepatolenticular Degeneration
A High-Calorie Diet Aggravates Mitochondrial Dysfunction and Triggers Severe Liver Damage in Wilson Disease Rats.
Hepatolenticular Degeneration
A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.
Hepatolenticular Degeneration
A Luminal Loop of Wilson Disease Protein Binds Copper and Is Required for Protein Activity.
Hepatolenticular Degeneration
A microbial peptide to rescue severe and fulminant Wilson disease?
Hepatolenticular Degeneration
A minigene approach for analysis of ATP7B splice variants in patients with Wilson disease.
Hepatolenticular Degeneration
A mutation in the ATP7B copper transporter causes reduced dopamine beta-hydroxylase and norepinephrine in mouse adrenal.
Hepatolenticular Degeneration
A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
Hepatolenticular Degeneration
A new ATP7B gene mutation with severe condition in two unrelated Iranian families with Wilson disease.
Hepatolenticular Degeneration
A new hepatocytic isoform of PLZF lacking the BTB domain interacts with ATP7B, the Wilson disease protein, and positively regulates ERK signal transduction.
Hepatolenticular Degeneration
A new strain of rat for functional analysis of PINA.
Hepatolenticular Degeneration
A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure.
Hepatolenticular Degeneration
A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.
Hepatolenticular Degeneration
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease.
Hepatolenticular Degeneration
A novel deletion mutation within the carboxyl terminus of the copper-transporting ATPase gene causes Wilson disease.
Hepatolenticular Degeneration
A novel gross deletion and breakpoint junction sequence analysis of ATP7B in a Chinese family with Wilson disease using next?generation sequencing and Sanger sequencing.
Hepatolenticular Degeneration
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.
Hepatolenticular Degeneration
A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.
Hepatolenticular Degeneration
A novel pineal night-specific ATPase encoded by the Wilson disease gene.
Hepatolenticular Degeneration
A novel role for the immunophilin FKBP52 in copper transport.
Hepatolenticular Degeneration
A rare homozygous missense mutation in ATP7B exon 19 in a case of Wilson disease.
Hepatolenticular Degeneration
A review and update on the diagnosis and treatment of neuropsychiatric Wilson disease.
Hepatolenticular Degeneration
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.
Hepatolenticular Degeneration
A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease.
Hepatolenticular Degeneration
Abnormal hepatobiliary and circulating lipid metabolism in the Long-Evans Cinnamon rat model of Wilson's disease.
Hepatolenticular Degeneration
Accuracy of the radioactive copper incorporation test in the diagnosis of Wilson disease.
Hepatolenticular Degeneration
Activation of LXR/RXR pathway ameliorates liver disease in atp7b(-/-) (wilson disease) mice.
Hepatolenticular Degeneration
Advances in the understanding of Mammalian copper transporters.
Hepatolenticular Degeneration
Age,sex, but not ATP7B genotype effectively influences the clinical phenotype of Wilson disease.
Hepatolenticular Degeneration
Age-dependent changes of cerebral copper metabolism in Atp7b
Hepatolenticular Degeneration
Alagille syndrome and Wilson disease in siblings: a diagnostic conundrum.
Hepatolenticular Degeneration
Altered zinc balance in the Atp7b-/- mouse reveals a mechanism of copper toxicity in Wilson disease.
Hepatolenticular Degeneration
An ?B-Crystallin Peptide Rescues Compartmentalization and Trafficking Response to Cu Overload of ATP7B-H1069Q, the Most Frequent Cause of Wilson Disease in the Caucasian Population.
Hepatolenticular Degeneration
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
Hepatolenticular Degeneration
An NMR study of the interaction of the N-terminal cytoplasmic tail of the Wilson disease protein with copper(I)-HAH1.
Hepatolenticular Degeneration
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration.
Hepatolenticular Degeneration
Analysis of exon 8 of ATP7B gene in Thai patients with Wilson disease.
Hepatolenticular Degeneration
Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae.
Hepatolenticular Degeneration
Analysis of most common mutations R778G, R778L, R778W, I1102T and H1069Q in Indian Wilson disease patients: correlation between genotype/phenotype/copper ATPase activity.
Hepatolenticular Degeneration
Analysis of the T1288R mutation of the Wilson disease ATP7B gene in four generations of a family: possible genotype-phenotype correlation with hepatic onset.
Hepatolenticular Degeneration
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Hepatolenticular Degeneration
Animal models of copper-associated liver disease.
Hepatolenticular Degeneration
Apolipoprotein E genotype analysis in Chinese Han ethnic children with Wilson's disease, with a concentration on those homozygous for R778L.
Hepatolenticular Degeneration
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice?
Hepatolenticular Degeneration
Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease.
Hepatolenticular Degeneration
Association of ATP7B mutation detection rate with biochemical characteristics in Korean patients with Wilson disease.
Hepatolenticular Degeneration
Association of K832R and R952K SNPs of Wilson's Disease Gene with Alzheimer's Disease.
Hepatolenticular Degeneration
Association of Variants in the CP, ATOX1 and COMMD1 Genes with Wilson Disease Symptoms in Latvia.
Hepatolenticular Degeneration
ATP6H, a subunit of vacuolar ATPase involved in metal transport: evaluation in canine copper toxicosis.
Hepatolenticular Degeneration
ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-?-hydroxylase.
Hepatolenticular Degeneration
ATP7B (WND) protein.
Hepatolenticular Degeneration
ATP7B activity is stimulated by PKC? in porcine liver.
Hepatolenticular Degeneration
ATP7b gene and Wilson's disease.
Hepatolenticular Degeneration
ATP7B Gene Mutations in Croatian Patients with Wilson Disease.
Hepatolenticular Degeneration
ATP7B knockout disturbs copper and lipid metabolism in Caco-2 cells.
Hepatolenticular Degeneration
ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.
Hepatolenticular Degeneration
ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.
Hepatolenticular Degeneration
ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients.
Hepatolenticular Degeneration
ATP7B variant c.1934T?>?G p.Met645Arg causes Wilson disease by promoting exon 6 skipping.
Hepatolenticular Degeneration
ATP7B variant penetrance explains differences between genetic and clinical prevalence estimates for Wilson disease.
Hepatolenticular Degeneration
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Hepatolenticular Degeneration
Author Correction: Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.
Hepatolenticular Degeneration
Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B.
Hepatolenticular Degeneration
Binding of copper(I) by the Wilson disease protein and its copper chaperone.
Hepatolenticular Degeneration
Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae.
Hepatolenticular Degeneration
Biochemical regulation and structural analysis of copper-transporting ATPase in a human hepatoma cell line for Wilson disease.
Hepatolenticular Degeneration
Biological functions of ceruloplasmin and their deficiency caused by mutation in genes regulating copper and iron metabolism.
Hepatolenticular Degeneration
Biomarkers for diagnosis of Wilson's disease.
Hepatolenticular Degeneration
Caenorhabditis elegans cDNA for a Menkes/Wilson disease gene homologue and its function in a yeast CCC2 gene deletion mutant.
Hepatolenticular Degeneration
Canine models of copper toxicosis for understanding mammalian copper metabolism.
Hepatolenticular Degeneration
Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach.
Hepatolenticular Degeneration
Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.
Hepatolenticular Degeneration
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
Hepatolenticular Degeneration
Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.
Hepatolenticular Degeneration
Cellular copper transport and metabolism.
Hepatolenticular Degeneration
Chances and shortcomins of adenovirus-mediated ATP7B gene transfer in Wilson disease: proof of principle demonstrated in a pilot study with LEC rats.
Hepatolenticular Degeneration
Characterization of mutation spectrum and identification of novel mutations in ATP7B gene from a cohort of Wilson disease patients: Functional and therapeutic implications.
Hepatolenticular Degeneration
Characterization of the molecular defect in the ATP7B gene in Wilson disease patients from Yugoslavia.
Hepatolenticular Degeneration
Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.
Hepatolenticular Degeneration
Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions.
Hepatolenticular Degeneration
Cisplatin handover between copper transporters: the effect of reducing agents.
Hepatolenticular Degeneration
Clinical and genetic analysis of pediatric patients with Wilson disease.
Hepatolenticular Degeneration
Clinical and molecular characterization of Wilson disease in Spanish patients.
Hepatolenticular Degeneration
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
Hepatolenticular Degeneration
Clinical molecular diagnosis of Wilson disease.
Hepatolenticular Degeneration
Clinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort study.
Hepatolenticular Degeneration
Clinical zinc deficiency as early presentation of Wilson disease.
Hepatolenticular Degeneration
Cloning, mapping and expression analysis of the sheep Wilson disease gene homologue.
Hepatolenticular Degeneration
Clusterin (Apolipoprotein J), a Molecular Chaperone That Facilitates Degradation of the Copper-ATPases ATP7A and ATP7B.
Hepatolenticular Degeneration
Cognitive impairment in stable Wilson disease across phenotype.
Hepatolenticular Degeneration
COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer.
Hepatolenticular Degeneration
Common mutations of ATP7B in Wilson disease patients from Hungary.
Hepatolenticular Degeneration
Communication between the N- and C-termini is required for Cu-stimulated Ser/Thr phosphorylation of Cu-(I)ATPase (ATP7B).
Hepatolenticular Degeneration
Comparison of transcranial sonography-magnetic resonance fusion imaging in Wilson's and early-onset Parkinson's diseases.
Hepatolenticular Degeneration
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants.
Hepatolenticular Degeneration
Compound overload of copper and iron in patients with Wilson's disease.
Hepatolenticular Degeneration
Comprehensive and comparative exploration of the Atp7b-/- mouse plasma proteome.
Hepatolenticular Degeneration
Computing the Pathogenicity of Wilson's Disease ATP7B Mutations: Implications for Disease Prevalence.
Hepatolenticular Degeneration
Conformational dynamics of metal-binding domains in Wilson disease protein: molecular insights into selective copper transfer.
Hepatolenticular Degeneration
Consequences of copper accumulation in the livers of the atp7b-/- (Wilson disease gene) knockout mice.
Hepatolenticular Degeneration
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions.
Hepatolenticular Degeneration
Copper balance and ceruloplasmin in chronic hepatitis in a Wilson disease animal model, LEC rats.
Hepatolenticular Degeneration
Copper chaperone Atox1 interacts with the metal-binding domain of Wilson's disease protein in cisplatin detoxification.
Hepatolenticular Degeneration
Copper does not alter the intracellular distribution of ATP7B, a copper-transporting ATPase.
Hepatolenticular Degeneration
Copper dysfunction in Alzheimer's disease: from meta-analysis of biochemical studies to new insight into genetics.
Hepatolenticular Degeneration
Copper excess in liver HepG2 cells interferes with apoptosis and lipid metabolic signaling at the protein level.
Hepatolenticular Degeneration
Copper relay path through the N-terminus of Wilson disease protein, ATP7B.
Hepatolenticular Degeneration
Copper specifically regulates intracellular phosphorylation of the Wilson's disease protein, a human copper-transporting ATPase.
Hepatolenticular Degeneration
Copper transfer to the N-terminal domain of the Wilson disease protein (ATP7B): X-ray absorption spectroscopy of reconstituted and chaperone-loaded metal binding domains and their interaction with exogenous ligands.
Hepatolenticular Degeneration
Copper transport and Alzheimer's disease.
Hepatolenticular Degeneration
Copper transport and its defect in Wilson disease: characterization of the copper-binding domain of Wilson disease ATPase.
Hepatolenticular Degeneration
Copper transport systems are involved in multidrug resistance and drug transport.
Hepatolenticular Degeneration
Copper transporting P-type ATPases and human disease.
Hepatolenticular Degeneration
Copper transportion of WD protein in hepatocytes from Wilson disease patients in vitro.
Hepatolenticular Degeneration
Copper(I)-binding properties of de-coppering drugs for the treatment of Wilson disease. ?-Lipoic acid as a potential anti-copper agent.
Hepatolenticular Degeneration
Copper- and iron-rich matrices in hepatocellular lipofuscin particles of a young male patient: diagnostic ultrastructures for Wilson disease.
Hepatolenticular Degeneration
Copper-chelating therapeutic effect in Wilson disease with different clinical phenotypes and polymorphisms of ATP7B gene.
Hepatolenticular Degeneration
Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A.
Hepatolenticular Degeneration
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins.
Hepatolenticular Degeneration
Copper-induced apical trafficking of ATP7B in polarized hepatoma cells provides a mechanism for biliary copper excretion.
Hepatolenticular Degeneration
Copper-induced conformational changes in the N-terminal domain of the Wilson disease copper-transporting ATPase.
Hepatolenticular Degeneration
Copper-induced translocation of the Wilson disease protein ATP7B independent of Murr1/COMMD1 and Rab7.
Hepatolenticular Degeneration
Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate.
Hepatolenticular Degeneration
Copper-transfer mechanism from the human chaperone Atox1 to a metal-binding domain of Wilson disease protein.
Hepatolenticular Degeneration
Correction of liver disease following transplantation of normal rat hepatocytes into Long-Evans Cinnamon rats modeling Wilson's disease.
Hepatolenticular Degeneration
Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase.
Hepatolenticular Degeneration
Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.
Hepatolenticular Degeneration
CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B.
Hepatolenticular Degeneration
Crystallization and preliminary X-ray studies of the N-domain of the Wilson disease associated protein.
Hepatolenticular Degeneration
Cu(I) binding and transfer by the N terminus of the Wilson disease protein.
Hepatolenticular Degeneration
Cu2+ toxicity inhibition of mitochondrial dehydrogenases in vitro and in vivo.
Hepatolenticular Degeneration
Curcumin Effect on Copper Transport in HepG2 Cells.
Hepatolenticular Degeneration
Current state of Wilson disease patients in central Japan.
Hepatolenticular Degeneration
Currently Clinical Views on Genetics of Wilson's Disease.
Hepatolenticular Degeneration
D-penicillamine-induced ANA (+) ANCA (+) vasculitis in pediatric patients with Wilson's disease.
Hepatolenticular Degeneration
Decreased serum antioxidant capacity in patients with Wilson disease is associated with neurological symptoms.
Hepatolenticular Degeneration
Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.
Hepatolenticular Degeneration
Defective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementation.
Hepatolenticular Degeneration
Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion.
Hepatolenticular Degeneration
Delineation of the spectrum of Wilson disease mutations in the Greek population and the identification of six novel mutations.
Hepatolenticular Degeneration
Design of intrahepatocyte copper(I) chelators as drug candidates for Wilson's disease.
Hepatolenticular Degeneration
Designing clinical trials in Wilson disease.
Hepatolenticular Degeneration
Detection of His1069Gln mutation in Wilson disease by bidirectional PCR amplification of specific alleles (BI-PASA) test.
Hepatolenticular Degeneration
Development and evaluation of an unlabeled probe high-resolution melting assay for detection of ATP7B mutations in Wilson's disease.
Hepatolenticular Degeneration
Development of cell therapy strategies to overcome copper toxicity in the LEC rat model of Wilson disease.
Hepatolenticular Degeneration
Development of low-density oligonucleotide microarrays for detecting mutations causing Wilson's disease.
Hepatolenticular Degeneration
Development of TaqMan allelic specific discrimination assay for detection of the most common Sardinian Wilson's disease mutations. Implications for genetic screening.
Hepatolenticular Degeneration
Developmental expression of Commd1 in the liver of the Jackson toxic milk mouse.
Hepatolenticular Degeneration
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.
Hepatolenticular Degeneration
Diagnosing Wilson's Disease under the sword of Damocles.
Hepatolenticular Degeneration
Diagnosis and phenotypic classification of Wilson disease.
Hepatolenticular Degeneration
Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of Cu-transporting ATPase ATP7B.
Hepatolenticular Degeneration
Direct diagnosis of Wilson disease by molecular genetics.
Hepatolenticular Degeneration
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Hepatolenticular Degeneration
Direct sequencing of mutations in the copper-transporting P-type adenosine triphosphate (ATP7B) gene for diagnosis and pathogenesis of Wilson's disease.
Hepatolenticular Degeneration
Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics.
Hepatolenticular Degeneration
Distinct clinical courses according to presenting phenotypes and their correlations to ATP7B mutations in a large Wilson's disease cohort.
Hepatolenticular Degeneration
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Hepatolenticular Degeneration
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
Hepatolenticular Degeneration
Disturbed copper transport in humans. Part 2: mutations of the ATP7B gene lead to Wilson disease (WD).
Hepatolenticular Degeneration
Diverse Functional Properties of Wilson Disease ATP7B Variants.
Hepatolenticular Degeneration
DNA and RNA studies for molecular characterization of a gross deletion detected in homozygosity in the NH2-terminal region of the ATP7B gene in a Wilson disease patient.
Hepatolenticular Degeneration
DNA linkage based diagnosis of Wilson disease in asymptomatic siblings.
Hepatolenticular Degeneration
Dynamic multibody protein interactions suggest versatile pathways for copper trafficking.
Hepatolenticular Degeneration
Early gestational gene transfer with targeted ATP7B expression in the liver improves phenotype in a murine model of Wilson's disease.
Hepatolenticular Degeneration
Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant.
Hepatolenticular Degeneration
Effects of soy protein isolate on LEC rats, a model of Wilson disease: mechanisms underlying enhancement of liver cell damage.
Hepatolenticular Degeneration
Efficient detection of mutations in Wilson disease by manifold sequencing.
Hepatolenticular Degeneration
EGFP tags affect cellular localization of ATP7B mutants.
Hepatolenticular Degeneration
Elevated copper impairs hepatic nuclear receptor function in Wilson's disease.
Hepatolenticular Degeneration
Elevated plasma nociceptin level in patients with Wilson disease.
Hepatolenticular Degeneration
Elucidation of the ATP7B N-domain Mg2+-ATP coordination site and its allosteric regulation.
Hepatolenticular Degeneration
Enthalpy-entropy compensation at play in human copper ion transfer.
Hepatolenticular Degeneration
Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease.
Hepatolenticular Degeneration
Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers.
Hepatolenticular Degeneration
Erythrocyte metabolism and antioxidant status of patients with Wilson disease with hemolytic anemia.
Hepatolenticular Degeneration
Establishment of hepatic and neural differentiation platforms of Wilson's disease specific induced pluripotent stem cells.
Hepatolenticular Degeneration
Estimation of Wilson's disease incidence and carrier frequency in the Korean population by screening ATP7B major mutations in newborn filter papers using the SYBR green intercalator method based on the amplification refractory mutation system.
Hepatolenticular Degeneration
Evaluation of the accuracy of exchangeable copper and relative exchangeable copper (REC) in a mouse model of Wilson's disease.
Hepatolenticular Degeneration
Evidence for a critical role of ceruloplasmin oxidase activity in iron metabolism of Wilson disease gene knockout mice.
Hepatolenticular Degeneration
Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration.
Hepatolenticular Degeneration
Excess copper and ceruloplasmin biosynthesis in long-term cultured hepatocytes from Long-Evans Cinnamon (LEC) rats, a model of Wilson disease.
Hepatolenticular Degeneration
Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides.
Hepatolenticular Degeneration
Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b.
Hepatolenticular Degeneration
Expression of ATP7B in normal human liver.
Hepatolenticular Degeneration
Expression, purification, and metal binding characteristics of the putative copper binding domain from the Wilson disease copper transporting ATPase (ATP7B).
Hepatolenticular Degeneration
Expression, purification, and metal binding properties of the N-terminal domain from the wilson disease putative copper-transporting ATPase (ATP7B).
Hepatolenticular Degeneration
Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran.
Hepatolenticular Degeneration
Fe(II)/Cu(I)-dependent P-type ATPase activity in the liver of Long-Evans cinnamon rats.
Hepatolenticular Degeneration
Feasibility of RNA studies on illegitimate transcription for molecular characterization of splicing mutations in the ATP7B gene: A case report.
Hepatolenticular Degeneration
Foreword: from classic bile physiology to cloned transporters.
Hepatolenticular Degeneration
From and to the Golgi - defining the Wilson disease protein road map.
Hepatolenticular Degeneration
Function and regulation of human copper-transporting ATPases.
Hepatolenticular Degeneration
Functional analysis and drug response to zinc and D-penicillamine in stable ATP7B mutant hepatic cell lines.
Hepatolenticular Degeneration
Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B.
Hepatolenticular Degeneration
Functional analysis of the sheep Wilson disease protein (sATP7B) in CHO cells.
Hepatolenticular Degeneration
Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.
Hepatolenticular Degeneration
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?
Hepatolenticular Degeneration
Functional characterization of new mutations in Wilson disease gene (ATP7B) using the yeast model.
Hepatolenticular Degeneration
Functional Characterization of Novel ATP7B Variants for Diagnosis of Wilson Disease.
Hepatolenticular Degeneration
Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases.
Hepatolenticular Degeneration
Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.
Hepatolenticular Degeneration
Functional iron deficiency in toxic milk mutant mice (tx-J) despite high hepatic ferroportin: a critical role of decreased GPI-ceruloplasmin expression in liver macrophages.
Hepatolenticular Degeneration
Functional properties of the copper-transporting ATPase ATP7B (the Wilson's disease protein) expressed in insect cells.
Hepatolenticular Degeneration
Functional properties of the human copper-transporting ATPase ATP7B (the Wilson's disease protein) and regulation by metallochaperone Atox1.
Hepatolenticular Degeneration
Functional roles of metal binding domains of the Archaeoglobus fulgidus Cu(+)-ATPase CopA.
Hepatolenticular Degeneration
Functional significance of the copper transporter ATP7 in peptidergic neurons and endocrine cells in Drosophila melanogaster.
Hepatolenticular Degeneration
Functional studies on the Wilson copper P-type ATPase and toxic milk mouse mutant.
Hepatolenticular Degeneration
Functional understanding of the versatile protein copper metabolism MURR1 domain 1 (COMMD1) in copper homeostasis.
Hepatolenticular Degeneration
Gene symbol: ATP7B. Disease: Wilson's disease.
Hepatolenticular Degeneration
Gene expression in the liver of Long-Evans cinnamon rats during the development of hepatitis.
Hepatolenticular Degeneration
Gene mutations in Wilson disease in Egyptian children: report on two novel mutations.
Hepatolenticular Degeneration
Gene symbol: ATP7B. Disease: Wilson disease.
Hepatolenticular Degeneration
Gene symbol: ATP7B. Disease: Wilson disease.
Hepatolenticular Degeneration
Gene symbol: ATP7B. Disease: Wilson's disease.
Hepatolenticular Degeneration
Gene symbol: ATP7B. Disease: Wilson's Disease.
Hepatolenticular Degeneration
Gene variants encoding proteins involved in antioxidant defense system and the clinical expression of Wilson disease.
Hepatolenticular Degeneration
Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene.
Hepatolenticular Degeneration
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene.
Hepatolenticular Degeneration
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi004-A) from a Wilson's disease patient harboring a homozygous Pro992Leu mutation in ATP7B gene.
Hepatolenticular Degeneration
Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi005-A) from a Wilson's disease patient harboring a homozygous Pro992Leu mutation in ATP7B gene.
Hepatolenticular Degeneration
Generation of induced pluripotent stem cell lines AKOSi002-A and AKOSi003-A from symptomatic female adults with Wilson disease.
Hepatolenticular Degeneration
Generation of two induced pluripotent stem cell lines from a female adult homozygous for the Wilson disease associated ATP7B variant p.H1069Q (AKOSi008-A) and a healthy control (AKOSi009-A).
Hepatolenticular Degeneration
Generation of two induced pluripotent stem cell lines from peripheral blood mononuclear cells of a patient with Wilson's disease.
Hepatolenticular Degeneration
Generation of ZJUi003-A, an induced pluripotent stem cell line from a Wilson's disease patient carrying a c.180_181del mutation in ATP7B gene.
Hepatolenticular Degeneration
Genetic analysis of 55 northern Vietnamese patients with Wilson disease: seven novel mutations in ATP7B.
Hepatolenticular Degeneration
Genetic analysis of ATP7B in 102 south Indian families with Wilson disease.
Hepatolenticular Degeneration
Genetic analysis of BIRC4/XIAP as a putative modifier gene of Wilson disease.
Hepatolenticular Degeneration
Genetic and Clinical Analysis in a Cohort of Patients with Wilson's Disease in Southwestern China.
Hepatolenticular Degeneration
Genetic background of Japanese patients with adult-onset storage diseases in the liver.
Hepatolenticular Degeneration
Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.
Hepatolenticular Degeneration
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16.
Hepatolenticular Degeneration
Genetic variability in the methylenetetrahydrofolate reductase gene (MTHFR) affects clinical expression of Wilson's Disease.
Hepatolenticular Degeneration
Genetic variation in the promoter and 5' UTR of the copper transporter, ATP7B, in patients with Wilson disease.
Hepatolenticular Degeneration
Genetic variation spectrum in ATP7B gene identified in Latvian patients with Wilson disease.
Hepatolenticular Degeneration
Genetics of Wilson disease and Wilson-like phenotype in a clinical series from eastern Spain.
Hepatolenticular Degeneration
Genetics of Wilson's disease: a clinical perspective.
Hepatolenticular Degeneration
Genetics of Wilsons disease.
Hepatolenticular Degeneration
Genotype correlation with fine motor symptoms in patients with Wilson's disease.
Hepatolenticular Degeneration
Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.
Hepatolenticular Degeneration
Genotype-phenotype correlation in Italian children with Wilson's disease.
Hepatolenticular Degeneration
Genotype-phenotype correlation of the Wilson disease ATP7B gene.
Hepatolenticular Degeneration
Genotype-phenotype correlations for a wide spectrum of mutations in the Wilson disease gene (ATP7B).
Hepatolenticular Degeneration
Genotype-phenotype correlations in a mountain population community with high prevalence of Wilson's disease: genetic and clinical homogeneity.
Hepatolenticular Degeneration
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.
Hepatolenticular Degeneration
Genotyping microarray as a novel approach for the detection of ATP7B gene mutations in patients with Wilson disease.
Hepatolenticular Degeneration
Geographic distribution of ATP7B mutations in Wilson disease.
Hepatolenticular Degeneration
Golgi-Dependent Copper Homeostasis Sustains Synaptic Development and Mitochondrial Content.
Hepatolenticular Degeneration
Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.
Hepatolenticular Degeneration
Haplotype and mutation analysis in Greek patients with Wilson disease.
Hepatolenticular Degeneration
Hemolytic anemia as first presentation of Wilson's disease with uncommon ATP7B mutation.
Hepatolenticular Degeneration
Hepatic copper accumulation in a young cat with familial variations in the ATP7B gene.
Hepatolenticular Degeneration
Hepatic copper-transporting ATPase ATP7B: function and inactivation at the molecular and cellular level.
Hepatolenticular Degeneration
Hepatic drug-metabolizing enzymes and drug transporters in Wilson's disease patients with liver failure.
Hepatolenticular Degeneration
Hepatocellular Carcinoma: An Unusual Complication of Longstanding Wilson Disease.
Hepatolenticular Degeneration
Hepatocyte GP73 expression in Wilson disease.
Hepatolenticular Degeneration
Hepatocyte transplantation in the Long Evans Cinnamon rat model of Wilson's disease.
Hepatolenticular Degeneration
Hepatocyte-specific localization and copper-dependent trafficking of the Wilson's disease protein in the liver.
Hepatolenticular Degeneration
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis.
Hepatolenticular Degeneration
High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson's disease.
Hepatolenticular Degeneration
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease.
Hepatolenticular Degeneration
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Hepatolenticular Degeneration
High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
Hepatolenticular Degeneration
High prevalence of the H1069Q mutation in East German patients with Wilson disease: rapid detection of mutations by limited sequencing and phenotype-genotype analysis.
Hepatolenticular Degeneration
High prevalence of the very rare Wilson disease gene mutation Leu708Pro in the Island of Gran Canaria (Canary Islands, Spain): a genetic and clinical study.
Hepatolenticular Degeneration
High yield heterologous expression of wild-type and mutant Cu+-ATPase (ATP7B, Wilson disease protein) for functional characterization of catalytic activity and serine residues undergoing copper-dependent phosphorylation.
Hepatolenticular Degeneration
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.
Hepatolenticular Degeneration
Homozygous frame shift variant in ATP7B exon 1 leads to bypass of nonsense-mediated mRNA decay and to a protein capable of copper export.
Hepatolenticular Degeneration
How to use tests for disorders of copper metabolism.
Hepatolenticular Degeneration
HUMAN COPPER TRANSPORTER ATP7B (WILSON DISEASE PROTEIN) FORMS STABLE DIMERS IN VITRO AND IN CELLS.
Hepatolenticular Degeneration
Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation.
Hepatolenticular Degeneration
Human Embryonic Stem Cell-Derived Wilson's Disease Model for Screening Drug Efficacy.
Hepatolenticular Degeneration
Hypercalciuria and nephrocalcinosis as early feature of Wilson disease onset: description of a pediatric case and literature review.
Hepatolenticular Degeneration
Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.
Hepatolenticular Degeneration
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
Hepatolenticular Degeneration
Identification and molecular characterization of 18 novel mutations in the ATP7B gene from Indian Wilson disease patients: genotype.
Hepatolenticular Degeneration
Identification of a high frequency of mutation at exon 8 of the ATP7B gene in a Chinese population with Wilson disease by fluorescent PCR.
Hepatolenticular Degeneration
Identification of a novel missense mutation in Wilson's disease gene.
Hepatolenticular Degeneration
Identification of a novel Wilson disease gene mutation frequent in Upper Austria: a genetic and clinical study.
Hepatolenticular Degeneration
Identification of high-copper-responsive target pathways in Atp7b knockout mouse liver by GSEA on microarray data sets.
Hepatolenticular Degeneration
Identification of mutations in the ATP7B gene in 14 Wilson disease children: Case series.
Hepatolenticular Degeneration
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Hepatolenticular Degeneration
Identification of novel mutations and the three most common mutations in the human ATP7B gene of Korean patients with Wilson disease.
Hepatolenticular Degeneration
Identification of one novel and nine recurrent mutations of the ATP7B gene in 11 children with Wilson disease.
Hepatolenticular Degeneration
Identification of the "missing domain" of the rat copper-transporting ATPase, atp7b: insight into the structural and metal binding characteristics of its N-terminal copper-binding domain.
Hepatolenticular Degeneration
Identification of the copper chaperone SAH in Ovis aries: expression analysis and in vitro interaction of SAH with ATP7B.
Hepatolenticular Degeneration
Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease.
Hepatolenticular Degeneration
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Hepatolenticular Degeneration
IgA vasculitis with nephritis in cirrhotic Wilson disease: Is there an association?
Hepatolenticular Degeneration
Imaging Copper Metabolism Imbalance in Atp7b (-/-) Knockout Mouse Model of Wilson's Disease with PET-CT and Orally Administered (64)CuCl (2).
Hepatolenticular Degeneration
Immunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi network.
Hepatolenticular Degeneration
Immunohistochemical determination of the Wilson Copper-transporting P-type ATPase in the brain tissues of the rat.
Hepatolenticular Degeneration
In Atp7b
-/-
Mice Modeling Wilson's Disease Liver Repopulation With Bone Marrow-Derived Myofibroblasts or Inflammatory Cells and Not Hepatocytes Is Deleterious.
Hepatolenticular Degeneration
In silico investigation of the ATP7B gene: insights from functional prediction of non-synonymous substitution to protein structure.
Hepatolenticular Degeneration
In vitro thermodynamic dissection of human copper transfer from chaperone to target protein.
Hepatolenticular Degeneration
In-silico analysis of novel p.(Gly14Ser) variant of ATOX1 gene: plausible role in modulating ATOX1-ATP7B interaction.
Hepatolenticular Degeneration
Inborn errors of copper metabolism.
Hepatolenticular Degeneration
Increased mutant frequency and altered mutation spectrum of the lacI transgene in Wilson disease rats with hepatitis.
Hepatolenticular Degeneration
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease.
Hepatolenticular Degeneration
Inherited disorders of transition metal metabolism: an update.
Hepatolenticular Degeneration
Inherited metabolic liver disease.
Hepatolenticular Degeneration
Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis.
Hepatolenticular Degeneration
Interdomain interactions modulate collective dynamics of the metal-binding domains in the Wilson disease protein.
Hepatolenticular Degeneration
Intestinal expression of metal transporters in Wilson's disease.
Hepatolenticular Degeneration
Intracellular trafficking of the human Wilson protein: the role of the six N-terminal metal-binding sites.
Hepatolenticular Degeneration
Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson's Disease Pathogenesis.
Hepatolenticular Degeneration
Investigation of the Wilson gene ATP7B transcriptional start site and the effect of core promoter alterations.
Hepatolenticular Degeneration
Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin.
Hepatolenticular Degeneration
Late neurological presentations of Wilson disease patients in French population and identification of 8 novel mutations in the ATP7B gene.
Hepatolenticular Degeneration
Lentiviral gene transfer ameliorates disease progression in Long-Evans cinnamon rats: an animal model for Wilson disease.
Hepatolenticular Degeneration
Linkage Analysis based on Four Microsatellite Markers to Screen for Unknown Mutation in Families with Wilson Disease.
Hepatolenticular Degeneration
Lipid and energy metabolism in Wilson disease.
Hepatolenticular Degeneration
Liver expression of a miniATP7B gene results in long-term restoration of copper homeostasis in a Wilson's disease model.
Hepatolenticular Degeneration
Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review.
Hepatolenticular Degeneration
Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.
Hepatolenticular Degeneration
Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease.
Hepatolenticular Degeneration
Liver pathology in Wilson's disease: From copper overload to cirrhosis.
Hepatolenticular Degeneration
Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation.
Hepatolenticular Degeneration
Localization of the Wilson disease protein in murine intestine.
Hepatolenticular Degeneration
Localization of the Wilson's disease protein in human liver.
Hepatolenticular Degeneration
Localization of the Wilson's disease protein product to mitochondria.
Hepatolenticular Degeneration
Long-Term Correction of Copper Metabolism in Wilson's Disease Mice with AAV8 Vector Delivering Truncated ATP7B.
Hepatolenticular Degeneration
Long-term metabolic correction of Wilson's disease in a murine model by gene therapy.
Hepatolenticular Degeneration
Low serum alkaline phosphatase activity due to asymptomatic hypophosphatasia in a teenage girl.
Hepatolenticular Degeneration
Mallory bodies, like the mutant of ATP7B seen in Wilson disease, are aggresomes.
Hepatolenticular Degeneration
Management Perspective of Wilson's Disease: Early Diagnosis and Individualized Therapy.
Hepatolenticular Degeneration
Mapping of the mouse homologue of the Wilson disease gene to mouse chromosome 8.
Hepatolenticular Degeneration
Maternal choline modifies fetal liver copper, gene expression, DNA methylation, and neonatal growth in the tx-j mouse model of Wilson disease.
Hepatolenticular Degeneration
Mechanism of tumor resistance to cisplatin mediated by the copper transporter ATP7B.
Hepatolenticular Degeneration
Mechanistic and Structural Basis for Inhibition of Copper Trafficking by Platinum Anticancer Drugs.
Hepatolenticular Degeneration
Metabolic disposition of WTX101 (bis-choline tetrathiomolybdate) in a rat model of Wilson disease.
Hepatolenticular Degeneration
Metabolic dysregulation in the Atp7b-/- Wilson's disease mouse model.
Hepatolenticular Degeneration
Metal binding domains 3 and 4 of the Wilson disease protein: solution structure and interaction with the copper(I) chaperone HAH1.
Hepatolenticular Degeneration
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.
Hepatolenticular Degeneration
Metallochaperone Atox1 transfers copper to the NH2-terminal domain of the Wilson's disease protein and regulates its catalytic activity.
Hepatolenticular Degeneration
Metallothionein and antioxidant enzymes in Long-Evans Cinnamon rats treated with zinc.
Hepatolenticular Degeneration
Metallothionein is elevated in liver and duodenum of Atp7b(-/-) mice.
Hepatolenticular Degeneration
Microbial peptide de-coppers mitochondria: implications for Wilson disease.
Hepatolenticular Degeneration
Mitochondria and degenerative disorders.
Hepatolenticular Degeneration
Modifying factors and phenotypic diversity in Wilson's disease.
Hepatolenticular Degeneration
Molecular analysis and diagnosis in Japanese patients with Wilson's disease.
Hepatolenticular Degeneration
Molecular analysis of 53 Chinese families with Wilson's disease: Six novel mutations identified.
Hepatolenticular Degeneration
Molecular analysis of Wilson patients: direct sequencing and MLPA analysis in the ATP7B gene and Atox1 and COMMD1 gene analysis.
Hepatolenticular Degeneration
Molecular and cellular aspects of copper transport in developing mammals.
Hepatolenticular Degeneration
Molecular diagnosis of Wilson disease.
Hepatolenticular Degeneration
Molecular Events Initiating Exit of a Copper-transporting ATPase ATP7B From the Trans-Golgi Network.
Hepatolenticular Degeneration
Molecular genetic diagnosis of Wilson disease by ARMS-PCR in a Pakistani family.
Hepatolenticular Degeneration
Molecular mechanism of copper transport in Wilson disease.
Hepatolenticular Degeneration
Molecular modelling of the nucleotide-binding domain of Wilson's disease protein: location of the ATP-binding site, domain dynamics and potential effects of the major disease mutations.
Hepatolenticular Degeneration
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis.
Hepatolenticular Degeneration
Molecular pathogenesis of Wilson disease: haplotype analysis, detection of prevalent mutations and genotype-phenotype correlation in Indian patients.
Hepatolenticular Degeneration
Most frequent mutation c.3402delC (p.Ala1135GlnfsX13) among Wilson disease patients in Venezuela has a wide distribution and two old origins.
Hepatolenticular Degeneration
mtDNA depletion-like syndrome in Wilson disease.
Hepatolenticular Degeneration
MTF1 binds to metal-responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expression.
Hepatolenticular Degeneration
Multi-allele genotyping platform for the simultaneous detection of mutations in the Wilson disease related ATP7B gene.
Hepatolenticular Degeneration
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease.
Hepatolenticular Degeneration
Multiplex ARMS PCR to Detect 8 Common Mutations of ATP7B Gene in Patients With Wilson Disease.
Hepatolenticular Degeneration
Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease.
Hepatolenticular Degeneration
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Hepatolenticular Degeneration
Mutation analysis and the correlation between genotype and phenotype of Arg778Leu mutation in chinese patients with Wilson disease.
Hepatolenticular Degeneration
Mutation analysis in patients of Mediterranean descent with Wilson disease: identification of 19 novel mutations.
Hepatolenticular Degeneration
Mutation analysis of ATP7B gene in Turkish Wilson disease patients: Identification of five novel mutations.
Hepatolenticular Degeneration
Mutation analysis of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinomas.
Hepatolenticular Degeneration
Mutation analysis of Taiwanese Wilson disease patients.
Hepatolenticular Degeneration
Mutation analysis of the ATP7B gene and genotype-phenotype correlation in Chinese patients with Wilson disease.
Hepatolenticular Degeneration
Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.
Hepatolenticular Degeneration
Mutation analysis of the ATP7B gene in a new group of Wilson's disease patients: contribution to diagnosis.
Hepatolenticular Degeneration
Mutation Analysis of the ATP7B Gene in Seven Chinese Families with Wilson's Disease.
Hepatolenticular Degeneration
Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.
Hepatolenticular Degeneration
Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease.
Hepatolenticular Degeneration
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Hepatolenticular Degeneration
Mutational analysis of ATP7B gene and the genotype-phenotype correlation in patients with wilson's disease in serbia analiza mutacija ATP7B gena i genetsko-klinicka korelacija kod obolelih od Wilson-ove bolesti u Srbiji.
Hepatolenticular Degeneration
Mutational analysis of ATP7B gene in Egyptian children with Wilson disease: 12 novel mutations.
Hepatolenticular Degeneration
Mutational analysis of ATP7B in Chinese Wilson disease patients.
Hepatolenticular Degeneration
Mutational analysis of ATP7B in north Chinese patients with Wilson disease.
Hepatolenticular Degeneration
Mutational characterization of ATP7B gene in 103 Wilson's disease patients from Southern China: identification of three novel mutations.
Hepatolenticular Degeneration
Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population.
Hepatolenticular Degeneration
Myosin Vb mediates copper export in polarized hepatocytes.
Hepatolenticular Degeneration
Neuroinflammatory and behavioural changes in the Atp7B mutant mouse model of Wilson's disease.
Hepatolenticular Degeneration
Neurologic Wilson's disease.
Hepatolenticular Degeneration
Neurological manifestations and ATP7B mutations in Wilson's disease.
Hepatolenticular Degeneration
Neurologically presenting Wilson's disease: epidemiology, pathophysiology and treatment.
Hepatolenticular Degeneration
New Horizons in Correction of Mutated ATP7B in Wilson Disease Using Pharmacological Agents: Precise Medicine.
Hepatolenticular Degeneration
New mutation (T1232P) of the ATP-7B gene associated with neurologic and neuropsychiatric dominance onset of Wilson's disease in three unrelated Colombian kindred.
Hepatolenticular Degeneration
New mutations and polymorphisms of the ATP7B gene in sporadic Wilson disease.
Hepatolenticular Degeneration
New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.
Hepatolenticular Degeneration
New novel mutation of the ATP7B gene in a family with Wilson disease.
Hepatolenticular Degeneration
NMR Characterization of Copper-Binding Domains 4-6 of ATP7B .
Hepatolenticular Degeneration
Non-radioactive detection of five common microsatellite markers for ATP7B gene in Wilson disease patients.
Hepatolenticular Degeneration
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups.
Hepatolenticular Degeneration
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report.
Hepatolenticular Degeneration
Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease.
Hepatolenticular Degeneration
Novel mutations of the ATP7B gene among 109 Hungarian patients with Wilson's disease.
Hepatolenticular Degeneration
Novel mutations of the ATP7B gene in Han Chinese families with pre-symptomatic Wilson's disease.
Hepatolenticular Degeneration
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
Hepatolenticular Degeneration
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
Hepatolenticular Degeneration
Nutritional influences in selected gastrointestinal diseases.
Hepatolenticular Degeneration
Overexpressed ATP7B protects mesenchymal stem cells from toxic copper.
Hepatolenticular Degeneration
Oxylipin Profiles in Plasma of Patients with Wilson's Disease.
Hepatolenticular Degeneration
p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.
Hepatolenticular Degeneration
p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.
Hepatolenticular Degeneration
Pathogenesis and management of Wilson disease.
Hepatolenticular Degeneration
Pathogenesis of Wilson disease.
Hepatolenticular Degeneration
Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.
Hepatolenticular Degeneration
Pathogenic gene variation spectrum and carrier screening for Wilson's disease in Qingdao area.
Hepatolenticular Degeneration
Pathophysiology and clinical features of Wilson disease.
Hepatolenticular Degeneration
Penicillamine increases free copper and enhances oxidative stress in the brain of toxic milk mice.
Hepatolenticular Degeneration
Perspectives for gene therapy of Wilson disease.
Hepatolenticular Degeneration
PET with 64Cu-histidine for noninvasive diagnosis of biliary copper excretion in Long-Evans cinnamon rat model of Wilson disease.
Hepatolenticular Degeneration
Pharmacoproteomics pinpoints HSP70 interaction for correction of the most frequent Wilson disease-causing mutant of ATP7B.
Hepatolenticular Degeneration
Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease.
Hepatolenticular Degeneration
Physiologic function of the Wilson disease gene product, ATP7B.
Hepatolenticular Degeneration
Pitfalls in diagnosing Wilson's Disease by genetic testing alone: the case of a 47-year-old woman with two pathogenic variants of the ATP7B gene.
Hepatolenticular Degeneration
Plasma exchange and chelator therapy rescues acute liver failure in Wilson disease without liver transplantation.
Hepatolenticular Degeneration
Polymorphisms in canine ATP7B: candidate modifier of copper toxicosis in the Bedlington terrier.
Hepatolenticular Degeneration
Polymorphisms of metal transporter genes DMT1 and ATP7A in Wilson's disease.
Hepatolenticular Degeneration
Population screening for Wilson's disease.
Hepatolenticular Degeneration
Positron Emission Tomography of Copper Metabolism in the Atp7b (-/-) Knock-out Mouse Model of Wilson's Disease.
Hepatolenticular Degeneration
Preclinical models of Wilson's disease, why dogs are catchy alternatives.
Hepatolenticular Degeneration
Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease.
Hepatolenticular Degeneration
Presence of the p.L456V polymorphism in Cuban patients clinically diagnosed with Wilson's disease.
Hepatolenticular Degeneration
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease.
Hepatolenticular Degeneration
Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.
Hepatolenticular Degeneration
Prevalence of ATP7B Gene Mutations in Iranian Patients With Wilson Disease.
Hepatolenticular Degeneration
Prevalence of Wilson disease based on genome databases in Japan.
Hepatolenticular Degeneration
Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson's Disease: Geographical Distribution and Founder Effect.
Hepatolenticular Degeneration
Probing functional roles of Wilson disease protein (ATP7B) copper-binding domains in yeast.
Hepatolenticular Degeneration
Production of Wilson Disease Model Rabbits with Homology-Directed Precision Point Mutations in the ATP7B Gene Using the CRISPR/Cas9 System.
Hepatolenticular Degeneration
Profound midbrain atrophy in patients with Wilson's disease and neurological symptoms?
Hepatolenticular Degeneration
Purification and functional reconstitution of the human Wilson copper ATPase, ATP7B.
Hepatolenticular Degeneration
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
Hepatolenticular Degeneration
Quantification of oxidative DNA lesions in tissues of long-evans cinnamon rats by capillary high-performance liquid chromatography-tandem mass spectrometry coupled with stable isotope-dilution method.
Hepatolenticular Degeneration
Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.
Hepatolenticular Degeneration
Rapid and reliable diagnosis of Wilson disease using X-ray fluorescence.
Hepatolenticular Degeneration
Rapid detection of mutations in Wilson disease gene ATP7B by DNA strip technology.
Hepatolenticular Degeneration
Rapid identification of Wilson's disease carriers by denaturing high-performance liquid chromatography.
Hepatolenticular Degeneration
Recognition and treatment of neurologic Wilson's disease.
Hepatolenticular Degeneration
Regional distribution of mutations of the ATP7B gene in patients with Wilson disease: impact on genetic testing.
Hepatolenticular Degeneration
Regulation of heme synthesis and proteasomal activity by copper: possible implications for Wilson's disease.
Hepatolenticular Degeneration
Rescue of ATP7B function in hepatocyte-like cells from Wilson's disease induced pluripotent stem cells using gene therapy or the chaperone drug curcumin.
Hepatolenticular Degeneration
Restoration of copper metabolism and rescue of hepatic abnormalities in LEC rats, an animal model of Wilson disease, by expression of human ATP7B gene.
Hepatolenticular Degeneration
Restoration of holoceruloplasmin synthesis in LEC rat after infusion of recombinant adenovirus bearing WND cDNA.
Hepatolenticular Degeneration
Retromer retrieves the Wilson disease protein ATP7B from endolysosomes in a copper-dependent manner.
Hepatolenticular Degeneration
Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease.
Hepatolenticular Degeneration
RNA analysis of consensus sequence splicing mutations: implications for the diagnosis of Wilson disease.
Hepatolenticular Degeneration
Role for Biochemical Assays and Kayser-Fleischer Rings in Diagnosis of Wilson's Disease.
Hepatolenticular Degeneration
Role of Atp7b gene in spontaneous and N-diethylnitrosamine-induced carcinogenesis in a new congenic strain, WKAH.C-Atp7b rats.
Hepatolenticular Degeneration
Role of copper transporters in copper homeostasis.
Hepatolenticular Degeneration
Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease.
Hepatolenticular Degeneration
Screening for mutations in ATP7B gene using conformation-sensitive gel electrophoresis in a family with Wilson's disease.
Hepatolenticular Degeneration
Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.
Hepatolenticular Degeneration
Secondary glaucoma with copper deposition in trabecular meshwork in Wilson disease.
Hepatolenticular Degeneration
Sequence variation database for the Wilson disease copper transporter, ATP7B.
Hepatolenticular Degeneration
Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system.
Hepatolenticular Degeneration
Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.
Hepatolenticular Degeneration
Severe hepatic Wilson's disease in preschool-aged children.
Hepatolenticular Degeneration
Significance of copper determination in late onset of Wilson's disease.
Hepatolenticular Degeneration
Single nucleotide polymorphisms in the human ATP7B gene modify the properties of the ATP7B protein.
Hepatolenticular Degeneration
Six novel ATP7B mutations in Thai Patients with Wilson disease.
Hepatolenticular Degeneration
Small pH and Salt Variations Radically Alter the Thermal Stability of Metal-Binding Domains in the Copper Transporter, Wilson Disease Protein.
Hepatolenticular Degeneration
Solution structure of the N-domain of Wilson disease protein: Distinct nucleotide-binding environment and effects of disease mutations.
Hepatolenticular Degeneration
Solution structures of the actuator domain of ATP7A and ATP7B, the Menkes and Wilson disease proteins.
Hepatolenticular Degeneration
Soy protein isolate enhances hepatic copper accumulation and cell damage in LEC rats.
Hepatolenticular Degeneration
Specific recognition, intracellular assay and detoxification of fluorescent curcumin derivative for copper ions.
Hepatolenticular Degeneration
Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis.
Hepatolenticular Degeneration
Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease.
Hepatolenticular Degeneration
Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort.
Hepatolenticular Degeneration
Stability and ATP Binding of the Nucleotide-binding Domain of the Wilson Disease Protein: Effect of the Common H1069Q Mutation.
Hepatolenticular Degeneration
Structural and functional insights of Wilson disease copper-transporting ATPase.
Hepatolenticular Degeneration
Structural and metabolic changes in Atp7b(-/-) mouse liver and potential for new interventions in Wilson's disease.
Hepatolenticular Degeneration
Structure of the ATP binding domain from the Archaeoglobus fulgidus Cu+-ATPase.
Hepatolenticular Degeneration
Synthetic Lethality Screening Identifies FDA-Approved Drugs that Overcome ATP7B-Mediated Tolerance of Tumor Cells to Cisplatin.
Hepatolenticular Degeneration
Systemic deletion of Atp7b modifies the hepatocytes' response to copper overload in the mouse models of Wilson disease.
Hepatolenticular Degeneration
Tackling metal regulation and transport at the single-molecule level.
Hepatolenticular Degeneration
Targeted Double-Stranded cDNA Sequencing-Based Phase Analysis to Identify Compound Heterozygous Mutations and Differential Allelic Expression.
Hepatolenticular Degeneration
Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice.
Hepatolenticular Degeneration
Targeted next-generation sequencing of the ATP7B gene for molecular diagnosis of Wilson disease.
Hepatolenticular Degeneration
Tetrathiomolybdate induces dimerization of the metal-binding domain of ATPase and inhibits platination of the protein.
Hepatolenticular Degeneration
The canine copper toxicosis gene MURR1 is not implicated in the pathogenesis of Wilson disease.
Hepatolenticular Degeneration
The copper chaperone Atox1 in canine copper toxicosis in Bedlington terriers.
Hepatolenticular Degeneration
The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.
Hepatolenticular Degeneration
The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum.
Hepatolenticular Degeneration
The cytosolic chaperone ?-crystallin B rescues folding and compartmentalization of misfolded multispan transmembrane proteins.
Hepatolenticular Degeneration
The discrepancy between the absence of copper deposition and the presence of neuronal damage in the brain of Atp7b(-/-) mice.
Hepatolenticular Degeneration
The distinct functional properties of the nucleotide-binding domain of ATP7B, the human copper-transporting ATPase: analysis of the Wilson disease mutations E1064A, H1069Q, R1151H, and C1104F.
Hepatolenticular Degeneration
The distinct roles of the N-terminal copper-binding sites in regulation of catalytic activity of the Wilson's disease protein.
Hepatolenticular Degeneration
The effect of zinc and D-penicillamine in a stable human hepatoma ATP7B knockout cell line.
Hepatolenticular Degeneration
The Function of ATPase Copper Transporter ATP7B in Intestine.
Hepatolenticular Degeneration
The genetics of Wilson disease.
Hepatolenticular Degeneration
The global prevalence of Wilson disease from next-generation sequencing data.
Hepatolenticular Degeneration
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
Hepatolenticular Degeneration
The His1069Gln mutation in the ATP7B gene in Romanian patients with Wilson's disease referred to a tertiary gastroenterology center.
Hepatolenticular Degeneration
The His1069Gln mutation in the ATP7B gene in Russian patients with Wilson disease.
Hepatolenticular Degeneration
The interactions between iron and copper in genetic iron overload syndromes and primary copper toxicoses in Japan.
Hepatolenticular Degeneration
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene.
Hepatolenticular Degeneration
The Long-Evans Cinnamon rat: an animal model for Wilson's disease.
Hepatolenticular Degeneration
The Lys1010-Lys1325 fragment of the Wilson's disease protein binds nucleotides and interacts with the N-terminal domain of this protein in a copper-dependent manner.
Hepatolenticular Degeneration
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Hepatolenticular Degeneration
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
Hepatolenticular Degeneration
The metal chaperone Atox1 regulates the activity of the human copper transporter ATP7B by modulating domain dynamics.
Hepatolenticular Degeneration
The molecular and cellular basis of copper dysregulation and its relationship with human pathologies.
Hepatolenticular Degeneration
The N-terminal metal-binding site 2 of the Wilson's Disease Protein plays a key role in the transfer of copper from Atox1.
Hepatolenticular Degeneration
The nucleotide-binding domain of the Zn2+-transporting P-type ATPase from Escherichia coli carries a glycine motif that may be involved in binding of ATP.
Hepatolenticular Degeneration
The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease.
Hepatolenticular Degeneration
The psychopharmacology of Wilson disease and other metabolic disorders.
Hepatolenticular Degeneration
The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.
Hepatolenticular Degeneration
The same haplotype for two unrelated Wilson disease patients with new ATP7B mutation.
Hepatolenticular Degeneration
The six metal binding domains in human copper transporter, ATP7B: molecular biophysics and disease-causing mutations.
Hepatolenticular Degeneration
The SLC31 (Ctr) copper transporter family.
Hepatolenticular Degeneration
The spectrum of pathogenic variants of the ATP7B gene in Wilson disease in the Russian Federation.
Hepatolenticular Degeneration
The Structure of Metal Binding Domain 1 of the Copper Transporter ATP7B Reveals Mechanism of a Singular Wilson Disease Mutation.
Hepatolenticular Degeneration
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Hepatolenticular Degeneration
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.
Hepatolenticular Degeneration
The Wilson disease gene: spectrum of mutations and their consequences.
Hepatolenticular Degeneration
The Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 protein.
Hepatolenticular Degeneration
The Wilson's disease protein expressed in Sf9 cells is phosphorylated.
Hepatolenticular Degeneration
Thiamine supplementation attenuated hepatocellular carcinoma in the Atp7b mouse model of Wilson's disease.
Hepatolenticular Degeneration
Three novel mutations in the ATP7B gene of unrelated Vietnamese patients with Wilson disease.
Hepatolenticular Degeneration
Transcranial sonography changes in heterozygotic carriers of the ATP7B gene.
Hepatolenticular Degeneration
Treatment with D-penicillamine or zinc sulphate affects copper metabolism and improves but not normalizes antioxidant capacity parameters in Wilson disease.
Hepatolenticular Degeneration
Trigonocephaly and Wilson's disease in two siblings.
Hepatolenticular Degeneration
Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease.
Hepatolenticular Degeneration
Twenty-four novel mutations in Wilson disease patients of predominantly italian origin.
Hepatolenticular Degeneration
Two forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments.
Hepatolenticular Degeneration
Two novel mutations (2976INSA, 4311insA) of ATP7B in a patient with Wilson's disease coexisting with glucose-6-phosphate dehydrogenase deficiency.
Hepatolenticular Degeneration
Ultrastructural identification of iron and copper accumulation in the liver of a male patient with Wilson disease.
Hepatolenticular Degeneration
Urinary copper elevation in a mouse model of Wilson's disease is a regulated process to specifically decrease the hepatic copper load.
Hepatolenticular Degeneration
Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits: a novel ATP7B mutation in an adult patient.
Hepatolenticular Degeneration
Variations in ATP7B in cats with primary copper-associated hepatopathy.
Hepatolenticular Degeneration
Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.
Hepatolenticular Degeneration
Wilson disease and related copper disorders.
Hepatolenticular Degeneration
Wilson disease in children.
Hepatolenticular Degeneration
Wilson disease in offspring of affected patients: report of four French families.
Hepatolenticular Degeneration
Wilson disease missense mutations in ATP7B affect metal-binding domain structural dynamics.
Hepatolenticular Degeneration
Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.
Hepatolenticular Degeneration
Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.
Hepatolenticular Degeneration
Wilson disease protein ATP7B is localized in the late endosomes in a polarized human hepatocyte cell line.
Hepatolenticular Degeneration
Wilson disease protein ATP7B utilizes lysosomal exocytosis to maintain copper homeostasis.
Hepatolenticular Degeneration
Wilson Disease With Novel Compound Heterozygote Mutations in the ATP7B Gene Presenting With Severe Diabetes.
Hepatolenticular Degeneration
Wilson disease.
Hepatolenticular Degeneration
Wilson disease: genetic basis of copper toxicity and natural history.
Hepatolenticular Degeneration
Wilson Disease: Intersecting DNA Methylation and Histone Acetylation Regulation of Gene Expression in a Mouse Model of Hepatic Copper Accumulation.
Hepatolenticular Degeneration
Wilson disease: new insights into pathogenesis, diagnosis, and future therapy.
Hepatolenticular Degeneration
Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients.
Hepatolenticular Degeneration
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity.
Hepatolenticular Degeneration
Wilson protein expression, copper excretion and sweat production in sweat glands of Wilson disease patients and controls.
Hepatolenticular Degeneration
Wilson's disease and other neurological copper disorders.
Hepatolenticular Degeneration
Wilson's Disease and Ulcerative Colitis in the Same Patient: Just A Coincidence? A Case Report and Literature Review.
Hepatolenticular Degeneration
Wilson's disease caused by alternative splicing and Alu exonization due to a homozygous 3039-bp deletion spanning from intron 1 to exon 2 of the ATP7B gene.
Hepatolenticular Degeneration
Wilson's disease in Southern Brazil: genotype-phenotype correlation and description of two novel mutations in ATP7B gene.
Hepatolenticular Degeneration
Wilson's disease in two consecutive generations: The detection of three mutated alleles in the ATP7B gene in two Sardinian families.
Hepatolenticular Degeneration
Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?
Hepatolenticular Degeneration
Wilson's Disease with Neurological Presentation, without Hepatic Involvement in Two Siblings.
Hepatolenticular Degeneration
Wilson's disease.
Hepatolenticular Degeneration
Wilson's Disease.
Hepatolenticular Degeneration
Wilson's disease.
Hepatolenticular Degeneration
Wilson's disease. Update of a systemic disorder with protean manifestations.
Hepatolenticular Degeneration
Wilson's Disease: A Review for the General Pediatrician.
Hepatolenticular Degeneration
Wilson's disease: A review of what we have learned.
Hepatolenticular Degeneration
Wilson's disease: an update.
Hepatolenticular Degeneration
Wilson's Disease: Diagnosis of Wilson's Disease in Ethiopian Young Sisters.
Hepatolenticular Degeneration
Wilson's disease: Prospective developments towards new therapies.
Hepatolenticular Degeneration
Wilson's disease: Update on integrated Chinese and Western medicine.
Hepatolenticular Degeneration
Wilson's disease: update on pathogenesis, biomarkers and treatments.
Hepatolenticular Degeneration
Zinc binding to the NH2-terminal domain of the Wilson disease copper-transporting ATPase: implications for in vivo metal ion-mediated regulation of ATPase activity.
Hepatolenticular Degeneration
[A novel mutation in ATP7B gene associated with severe neurological impairment in Wilson's disease.]
Hepatolenticular Degeneration
[A patient with Sanfilippo syndrome type B and Wilson disease born to unrelated parents]
Hepatolenticular Degeneration
[A simple and rapid method for detection of the 106Gln mutation in Wilson-Konovalov disease]
Hepatolenticular Degeneration
[Advances in the molecular diagnosis of Wilson's disease.]
Hepatolenticular Degeneration
[Biological regulation of copper and selective removal of copper: therapy for Wilson disease and its molecular mechanism]
Hepatolenticular Degeneration
[Copper intoxication decreases lifespan and induces neurologic alterations in Drosophila melanogaster].
Hepatolenticular Degeneration
[Copper metabolism and genetic disorders].
Hepatolenticular Degeneration
[Curative effect of TCM-WM therapy on Wilson disease with different clinical phenotypes and polymorphisms of ATP7B gene]
Hepatolenticular Degeneration
[Effect of the mutation of promoter region in Wilson disease ATP7B gene on the expression of reporter gene]
Hepatolenticular Degeneration
[Evaluating the efficacy of diet therapy with protein component modification at Wilson disease].
Hepatolenticular Degeneration
[Expression characters of ATP7B mRNA in liver tissue of patients with Wilson's disease]
Hepatolenticular Degeneration
[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B]
Hepatolenticular Degeneration
[Genotype and phenotype correlation in Chinese patients with Wilson's Disease]
Hepatolenticular Degeneration
[Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease.]
Hepatolenticular Degeneration
[Haplotype analysis at R778L mutation of ATP7B gene in Korean patients with Wilson disease.]
Hepatolenticular Degeneration
[Identification of ATP7B gene variant by combined use of Sanger sequencing, array CGH and quantitative PCR].
Hepatolenticular Degeneration
[Mutation screening and prenatal diagnosis of Wilson's disease by denature high performance liquid chromatography.]
Hepatolenticular Degeneration
[Mutational analysis of ATP7B gene of hepatolenticular degeneration in Xinjiang region].
Hepatolenticular Degeneration
[Peripheral nociceptin levels in Wilson disease]
Hepatolenticular Degeneration
[Phenotype and genotype analysis of 55 children patients with Wilson's disease].
Hepatolenticular Degeneration
[Progress in molecular mechanism of hepatolenticular degeneration induced by ATP7B gene mutation].
Hepatolenticular Degeneration
[Rapid detection of common ATP7B mutations in Wilson disease by high resolution melting analysis.]
Hepatolenticular Degeneration
[Research progress in gene therapy for Wilson's disease].
Hepatolenticular Degeneration
[Screening for carriers of pathogenic genes for methylmalonic acidemia and Wilson's disease in neonates in Qingdao].
Hepatolenticular Degeneration
[Study on relationship between Arg778Leu/Gln gene mutation spot in ATP7B and TCM syndrome type in Chinese patients with Wilson disease]
Hepatolenticular Degeneration
[The onset of psychiatric disorders and Wilson's disease]
Hepatolenticular Degeneration
[The role of the yolk sac in copper metabolism during rat embryogenesis]
Hepatolenticular Degeneration
[Unusual history of Wilson disease: a case report and review of the literature].
Hepatolenticular Degeneration
[Whole blood allele-specific PCR, a simple method to detect four ATP7B gene mutations in Wilson disease].
Hepatolenticular Degeneration
[Wilson disease]
Hepatolenticular Degeneration
[Wilson's disease - a case report].
Hepatolenticular Degeneration
[Wilson's disease and its pharmacological treatment]
Hepatolenticular Degeneration
[Wilson's disease in paediatric age: diagnosis and treatment. Recent advances]
Hepatolenticular Degeneration
[Wilson's disease or hepatolenticular degeneration].
Hepatolenticular Degeneration
[Wilson's disease]
Hermanski-Pudlak Syndrome
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
Hermanski-Pudlak Syndrome
[Hypomelanoses transmitted from generation to generation].
Hyperprolactinemia
Mammary gland copper transport is stimulated by prolactin through alterations in Ctr1 and Atp7A localization.
Hypertension
Role of Menkes ATPase in angiotensin II-induced hypertension: a key modulator for extracellular superoxide dismutase function.
Hypertension, Pulmonary
Upregulated copper transporters in hypoxia-induced pulmonary hypertension.
Hypopigmentation
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
Hypopigmentation
Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation.
Hypopigmentation
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
Hypopigmentation
Zebrafish sod1 and sp1 expression are modulated by the copper ATPase gene atp7a in response to intracellular copper status.
Infections
A copper-transporting ATPase BcCCC2 is necessary for pathogenicity of Botrytis cinerea.
Infections
Changes in mammalian copper homeostasis during microbial infection.
Infections
clap1, a gene encoding a copper-transporting ATPase involved in the process of infection by the phytopathogenic fungus Colletotrichum lindemuthianum.
Infections
Cryptococcus neoformans Copper Detoxification Machinery Is Critical for Fungal Virulence.
Infections
Genome Evolution and Innovation across the Four Major Lineages of Cryptococcus gattii.
Infections
Mitochondrial ATP-ASE as a measure of uncoupling of rat muscle mitochondria in experimental infection with Trichinella spiralis and Trichinella pseudospiralis.
Influenza, Human
Host Cell Copper Transporters CTR1 and ATP7A are important for Influenza A virus replication.
Intellectual Disability
Autonomous requirements of the Menkes disease protein in the nervous system.
Intervertebral Disc Displacement
Evidence for shoulder girdle dystonia in selected patients with cervical disc prolapse.
Iron Deficiencies
Copper stabilizes the Menkes copper-transporting ATPase (Atp7a) protein expressed in rat intestinal epithelial cells.
Iron Deficiencies
Exploration of the Copper Related Compensatory Response in the Belgrade Rat Model of Genetic Iron Deficiency.
Iron Deficiencies
Identification of differentially expressed genes in response to dietary iron deprivation in rat duodenum.
Iron Deficiencies
Investigation of iron metabolism in mice expressing a mutant Menke's copper transporting ATPase (Atp7a) protein with diminished activity (Brindled; Mo (Br) (/y) ).
Iron Deficiencies
Iron deficiency in the pregnant rat has differential effects on maternal and fetal copper levels.
Iron Deficiencies
Menkes Copper ATPase (Atp7a) is a novel metal-responsive gene in rat duodenum, and immunoreactive protein is present on brush-border and basolateral membrane domains.
Iron Deficiencies
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.
Iron Deficiencies
Multiple Menkes copper ATPase (Atp7a) transcript and protein variants are induced by iron deficiency in rat duodenal enterocytes.
Iron Deficiencies
Silencing the Menkes copper-transporting ATPase (Atp7a) gene in rat intestinal epithelial (IEC-6) cells increases iron flux via transcriptional induction of ferroportin 1 (Fpn1).
Iron Overload
Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.
Iron Overload
Role of external loops of human ceruloplasmin in copper loading by ATP7B and CCC2P.
Iron Overload
The interactions between iron and copper in genetic iron overload syndromes and primary copper toxicoses in Japan.
Leukemia
Progress in developing MNK inhibitors.
Lipoma
Gene expression and single nucleotide polymorphism array analyses of spindle cell lipomas and conventional lipomas with 13q14 deletion.
Liver Cirrhosis
Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae.
Liver Cirrhosis
Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease.
Liver Cirrhosis
Lentiviral gene transfer ameliorates disease progression in Long-Evans cinnamon rats: an animal model for Wilson disease.
Liver Cirrhosis
Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.
Liver Diseases
Animal models of Wilson disease.
Liver Diseases
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Liver Diseases
CRISPR/Cas9-mediated correction of mutated copper transporter ATP7B.
Liver Diseases
Currently Clinical Views on Genetics of Wilson's Disease.
Liver Diseases
Direct diagnosis of Wilson disease by molecular genetics.
Liver Diseases
Homozygosity for Non-H1069Q Missense Mutations in ATP7B Gene and Early Severe Liver Disease: Report of Two Families and a Meta-analysis.
Liver Diseases
Homozygous mutations in the conserved ATP hinge region of the Wilson disease gene: association with liver disease.
Liver Diseases
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Liver Diseases
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
Liver Diseases
The puzzle posed by COMMD1, a newly discovered protein binding Cu(II).
Liver Diseases
Wilson's disease: A review of what we have learned.
Liver Diseases
[Present status of diagnosis and treatment of hepatolenticular degeneration].
Liver Failure
A novel ATP7B gene mutation in a liver failure patient with normal ceruloplasmin and low serum alkaline phosphatase.
Liver Failure
A Novel Mutation of ATP7B Gene in a Case of Wilson Disease.
Liver Failure
Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review.
Liver Failure
Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.
Liver Failure
Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease.
Liver Failure
The interactions between iron and copper in genetic iron overload syndromes and primary copper toxicoses in Japan.
Liver Failure, Acute
A new variant deletion of a copper-transporting P-type ATPase gene found in patients with Wilson's disease presenting with fulminant hepatic failure.
Liver Failure, Acute
High prevalence of fulminant hepatic failure among patients with mutant alleles for truncation of ATP7B in Wilson's disease.
Liver Failure, Acute
The plant decapeptide OSIP108 prevents copper-induced toxicity in various models for Wilson disease.
Liver Failure, Acute
Wilson's disease: A review of what we have learned.
Liver Neoplasms
Altered copper homeostasis underlies sensitivity of hepatocellular carcinoma to copper chelation.
Liver Neoplasms
ATP7B Binds Ruthenium(II) p-Cymene Half-Sandwich Complexes: Role of Steric Hindrance and Ru-I Coordination in Rescuing the Sequestration.
Liver Neoplasms
Coffee consumption delays the hepatitis and suppresses the inflammation related gene expression in the Long-Evans Cinnamon rat.
Liver Neoplasms
Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B.
Lung Neoplasms
Association of ATP7A expression and in vitro sensitivity to cisplatin in non-small cell lung cancer.
Lung Neoplasms
ATP7B expression is associated with in vitro sensitivity to cisplatin in non-small cell lung cancer.
Lung Neoplasms
ATP7B rs9535826 is associated with gastrointestinal toxicity of platinum-based chemotherapy in nonsmall cell lung cancer patients.
Lung Neoplasms
Clinical outcome of cisplatin-based chemotherapy is associated with the polymorphisms of GSTP1 and XRCC1 in advanced non-small cell lung cancer patients.
Lung Neoplasms
Copper transporter CTR1 expression and tissue platinum concentration in non-small cell lung cancer.
Lung Neoplasms
Copper-transporting P-type adenosine triphosphatase (ATP7A) is associated with platinum-resistance in non-small cell lung cancer (NSCLC).
Lung Neoplasms
Correlation of Expression Levels of Copper Transporter 1 and Thymidylate Synthase with Treatment Outcomes in Patients with Advanced Non-small Cell Lung Cancer Treated with S-1/Carboplatin Doublet Chemotherapy
Lung Neoplasms
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) correlates with cisplatin resistance in human non-small cell lung cancer xenografts.
Lung Neoplasms
Expression of the copper transporters hCtr1, ATP7A and ATP7B is associated with the response to chemotherapy and survival time in patients with resected non-small cell lung cancer.
Lung Neoplasms
Gene expression and single nucleotide polymorphism of ATP7B are associated with platinum-based chemotherapy response in non-small cell lung cancer patients.
Lung Neoplasms
Impact of the Copper Transporter Protein 1 (CTR1) Polymorphism on Adverse Events among Advanced NonSmall Cell Lung Cancer Patients Treated with a Carboplatin/Gemcitabine Regimen.
Lung Neoplasms
MiR-495 enhances the sensitivity of non-small cell lung cancer cells to platinum by modulation of copper-transporting P-type adenosine triphosphatase A (ATP7A).
Lung Neoplasms
Predictive and prognostic value of human copper transporter 1 (hCtr1) in patients with stage III non-small-cell lung cancer receiving first-line platinum-based doublet chemotherapy.
Lung Neoplasms
Predictive Value of BRCA1, ERCC1, ATP7B, PKM2, TOPOI, TOP?-IIA, TOPOIIB and C-MYC Genes in Patients with Small Cell Lung Cancer (SCLC) Who Received First Line Therapy with Cisplatin and Etoposide.
Lung Neoplasms
Role of human copper transporter Ctr1 in the transport of platinum-based antitumor agents in cisplatin-sensitive and cisplatin-resistant cells.
Lung Neoplasms
The ATP7B genetic polymorphisms predict clinical outcome to platinum-based chemotherapy in lung cancer patients.
Lung Neoplasms
[Ca2+, Mg2+-ATPase activity of the erythrocyte membrane in patients with lung cancer]
Malaria
Copper-transporting ATPase is important for malaria parasite fertility.
Malnutrition
Effect of exercise during rehabilitation on swimming performance, metabolism and function of muscle in rats.
Mastocytoma
Synthesis and activation of mitotic Ca2+-adenosinetriphosphatase during the cell cycle of mouse mastocytoma cells.
Meningoencephalitis
Genome Evolution and Innovation across the Four Major Lineages of Cryptococcus gattii.
Meningoencephalitis
Role of CTR4 in the Virulence of Cryptococcus neoformans.
Menkes Kinky Hair Syndrome
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
Menkes Kinky Hair Syndrome
A 37-years-old Menkes disease patient - Residual ATP7A activity and early copper administration as key factors in beneficial treatment.
Menkes Kinky Hair Syndrome
A C-terminal di-leucine is required for localization of the Menkes protein in the trans-Golgi network.
Menkes Kinky Hair Syndrome
A comparison of the mutation spectra of Menkes disease and Wilson disease.
Menkes Kinky Hair Syndrome
A conditional mutation affecting localization of the Menkes disease copper ATPase. Suppression by copper supplementation.
Menkes Kinky Hair Syndrome
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase.
Menkes Kinky Hair Syndrome
A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment.
Menkes Kinky Hair Syndrome
A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport.
Menkes Kinky Hair Syndrome
A Golgi localization signal identified in the Menkes recombinant protein.
Menkes Kinky Hair Syndrome
A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.
Menkes Kinky Hair Syndrome
A murine model of Menkes disease reveals a physiological function of metallothionein.
Menkes Kinky Hair Syndrome
A novel ATP7A gross deletion mutation in a Korean patient with Menkes disease.
Menkes Kinky Hair Syndrome
A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease.
Menkes Kinky Hair Syndrome
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.
Menkes Kinky Hair Syndrome
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype.
Menkes Kinky Hair Syndrome
A novel role for the immunophilin FKBP52 in copper transport.
Menkes Kinky Hair Syndrome
A Novel Two-Nucleotide Deletion in the ATP7A Gene Associated With Delayed Infantile Onset of Menkes Disease.
Menkes Kinky Hair Syndrome
A numerical investigation into possible mechanisms by that the A629P mutant of ATP7A causes Menkes Disease.
Menkes Kinky Hair Syndrome
A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.
Menkes Kinky Hair Syndrome
A serine-to-proline mutation in the copper-transporting P-type ATPase gene of the macular mouse.
Menkes Kinky Hair Syndrome
A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.
Menkes Kinky Hair Syndrome
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Menkes Kinky Hair Syndrome
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
Menkes Kinky Hair Syndrome
Actin and microtubule regulation of trans-Golgi network architecture, and copper-dependent protein transport to the cell surface.
Menkes Kinky Hair Syndrome
Adipocyte-specific disruption of ATPase copper transporting ? in mice accelerates lipoatrophy.
Menkes Kinky Hair Syndrome
Advances in the understanding of Mammalian copper transporters.
Menkes Kinky Hair Syndrome
Alteration of copper physiology in mice overexpressing the human Menkes protein ATP7A.
Menkes Kinky Hair Syndrome
Alterations in the expression of the Atp7a gene in the early postnatal development of the mosaic mutant mice (Atp7a(mo-ms)) - An animal model for Menkes disease.
Menkes Kinky Hair Syndrome
Altered ATP7A expression and other compensatory responses in a murine model of Menkes disease.
Menkes Kinky Hair Syndrome
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Menkes Kinky Hair Syndrome
An atomic-level investigation of the disease-causing A629P mutant of the Menkes protein, ATP7A.
Menkes Kinky Hair Syndrome
An NMR study of the interaction between the human copper(I) chaperone and the second and fifth metal-binding domains of the Menkes protein.
Menkes Kinky Hair Syndrome
An overview and update of ATP7A mutations leading to menkes disease and occipital horn syndrome.
Menkes Kinky Hair Syndrome
An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly.
Menkes Kinky Hair Syndrome
ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis.
Menkes Kinky Hair Syndrome
ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-?-hydroxylase.
Menkes Kinky Hair Syndrome
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Menkes Kinky Hair Syndrome
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
Menkes Kinky Hair Syndrome
ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.
Menkes Kinky Hair Syndrome
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Menkes Kinky Hair Syndrome
ATP7A trafficking and mechanisms underlying the distal motor neuropathy induced by mutations in ATP7A.
Menkes Kinky Hair Syndrome
ATP7A transgenic and nontransgenic mice are resistant to high copper exposure.
Menkes Kinky Hair Syndrome
ATP7A-Regulated Enzyme Metalation and Trafficking in the Menkes Disease Puzzle.
Menkes Kinky Hair Syndrome
ATP7A-related copper transport diseases-emerging concepts and future trends.
Menkes Kinky Hair Syndrome
Autonomous requirements of the Menkes disease protein in the nervous system.
Menkes Kinky Hair Syndrome
Biochemical characterization and intracellular localization of the Menkes disease protein.
Menkes Kinky Hair Syndrome
Catecholamine Metabolites Affected by the Copper-Dependent Enzyme Dopamine-Beta-Hydroxylase Provide Sensitive Biomarkers for Early Diagnosis of Menkes Disease and Viral-Mediated ATP7A Gene Therapy.
Menkes Kinky Hair Syndrome
Cell-specific ATP7A transport sustains copper-dependent tyrosinase activity in melanosomes.
Menkes Kinky Hair Syndrome
Cell-Specific Trafficking Suggests a new role for Renal ATP7B in the Intracellular Copper Storage.
Menkes Kinky Hair Syndrome
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.
Menkes Kinky Hair Syndrome
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
Menkes Kinky Hair Syndrome
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Menkes Kinky Hair Syndrome
Characterization of colorectal-cancer-related cDNA clones obtained by subtractive hybridization screening.
Menkes Kinky Hair Syndrome
Characterization of the Menkes protein copper-binding domains and their role in copper-induced protein relocalization.
Menkes Kinky Hair Syndrome
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
Menkes Kinky Hair Syndrome
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
Menkes Kinky Hair Syndrome
Combined zebrafish-yeast chemical-genetic screens reveal gene-copper-nutrition interactions that modulate melanocyte pigmentation.
Menkes Kinky Hair Syndrome
COMMD1, a multi-potent intracellular protein involved in copper homeostasis, protein trafficking, inflammation, and cancer.
Menkes Kinky Hair Syndrome
Conditional knockout of the menkes disease copper transporter demonstrates its critical role in embryogenesis.
Menkes Kinky Hair Syndrome
Congenital cataract, muscular hypotonia, developmental delay and sensorineural hearing loss associated with a defect in copper metabolism.
Menkes Kinky Hair Syndrome
Conservation of copper-transporting P(IB)-type ATPase function.
Menkes Kinky Hair Syndrome
Cooperative binding of copper(I) to the metal binding domains in Menkes disease protein.
Menkes Kinky Hair Syndrome
Copper efflux from murine microvascular cells requires expression of the menkes disease Cu-ATPase.
Menkes Kinky Hair Syndrome
Copper homeostasis in the CNS: a novel link between the NMDA receptor and copper homeostasis in the hippocampus.
Menkes Kinky Hair Syndrome
Copper therapy reduces intravascular hemolysis and derepresses ferroportin in mice with mosaic mutation (Atp7a
Menkes Kinky Hair Syndrome
Copper Toxicity Associated With an ATP7A-Related Complex Phenotype.
Menkes Kinky Hair Syndrome
Copper transport systems are involved in multidrug resistance and drug transport.
Menkes Kinky Hair Syndrome
Copper transporting P-type ATPases and human disease.
Menkes Kinky Hair Syndrome
Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate.
Menkes Kinky Hair Syndrome
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
Menkes Kinky Hair Syndrome
Copper-transporting P-type ATPase, ATP7A, confers multidrug resistance and its expression is related to resistance to SN-38 in clinical colon cancer.
Menkes Kinky Hair Syndrome
Correction of the copper transport defect of Menkes patient fibroblasts by expression of the Menkes and Wilson ATPases.
Menkes Kinky Hair Syndrome
Correction of the copper transport defect of Menkes patient fibroblasts by expression of two forms of the sheep Wilson ATPase.
Menkes Kinky Hair Syndrome
Defective copper-induced trafficking and localization of the Menkes protein in patients with mild and copper-treated classical Menkes disease.
Menkes Kinky Hair Syndrome
Developmental changes in the expression of ATP7A during a critical period in postnatal neurodevelopment.
Menkes Kinky Hair Syndrome
Developmental expression of the mouse mottled and toxic milk genes suggests distinct functions for the Menkes and Wilson disease copper transporters.
Menkes Kinky Hair Syndrome
Diagnostic copper imaging of Menkes disease by synchrotron radiation-generated X-ray fluorescence analysis.
Menkes Kinky Hair Syndrome
Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
Menkes Kinky Hair Syndrome
Disturbed copper transport in humans. Part 1: mutations of the ATP7A gene lead to Menkes disease and occipital horn syndrome.
Menkes Kinky Hair Syndrome
Downregulation of myelination, energy, and translational genes in Menkes disease brain.
Menkes Kinky Hair Syndrome
Drug targets in Menkes disease - prospective developments.
Menkes Kinky Hair Syndrome
Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease.
Menkes Kinky Hair Syndrome
Effect of the toxic milk mutation (tx) on the function and intracellular localization of Wnd, the murine homologue of the Wilson copper ATPase.
Menkes Kinky Hair Syndrome
Effects of Copper Supplementation on the Structure and Content of Elements in Kidneys of Mosaic Mutant Mice.
Menkes Kinky Hair Syndrome
Elesclomol alleviates Menkes pathology and mortality by escorting Cu to cuproenzymes in mice.
Menkes Kinky Hair Syndrome
Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
Menkes Kinky Hair Syndrome
Eukaryotic expression vectors that replicate to low copy number in bacteria: transient expression of the Menkes protein.
Menkes Kinky Hair Syndrome
Evidence for a Menkes-like protein with a nuclear targeting sequence.
Menkes Kinky Hair Syndrome
Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
Menkes Kinky Hair Syndrome
Expression in mouse kidney of membrane copper transporters Atp7a and Atp7b.
Menkes Kinky Hair Syndrome
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Menkes Kinky Hair Syndrome
First trimester prenatal diagnosis of Menkes disease by DNA analysis.
Menkes Kinky Hair Syndrome
Function and regulation of human copper-transporting ATPases.
Menkes Kinky Hair Syndrome
Functional analysis and intracellular localization of the human menkes protein (MNK) stably expressed from a cDNA construct in Chinese hamster ovary cells (CHO-K1).
Menkes Kinky Hair Syndrome
Functional analysis of copper homeostasis in cell culture models: a new perspective on internal copper transport.
Menkes Kinky Hair Syndrome
Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases.
Menkes Kinky Hair Syndrome
Gene amplification of the Menkes (MNK; ATP7A) P-type ATPase gene of CHO cells is associated with copper resistance and enhanced copper efflux.
Menkes Kinky Hair Syndrome
Gene symbol: ATP7A. Disease: Menkes disease.
Menkes Kinky Hair Syndrome
Genes regulating copper metabolism.
Menkes Kinky Hair Syndrome
Genomic organization of ATOX1, a human copper chaperone.
Menkes Kinky Hair Syndrome
Haemolysis and perturbations in the systemic iron metabolism of suckling, copper-deficient mosaic mutant mice - an animal model of Menkes disease.
Menkes Kinky Hair Syndrome
Haplotype and mutation analysis in Japanese patients with Wilson disease.
Menkes Kinky Hair Syndrome
Human Macrophage ATP7A is Localized in the trans-Golgi Apparatus, Controls Intracellular Copper Levels, and Mediates Macrophage Responses to Dermal Wounds.
Menkes Kinky Hair Syndrome
Identification of a di-leucine motif within the C terminus domain of the Menkes disease protein that mediates endocytosis from the plasma membrane.
Menkes Kinky Hair Syndrome
Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.
Menkes Kinky Hair Syndrome
Identification of novel ATP7A mutations and prenatal diagnosis in Chinese patients with Menkes disease.
Menkes Kinky Hair Syndrome
Identification of point mutations in 41 unrelated patients affected with Menkes disease.
Menkes Kinky Hair Syndrome
Identification of three novel mutations in Japanese patients with Menkes disease and mutation screening by denaturing high performance liquid chromatography.
Menkes Kinky Hair Syndrome
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
Menkes Kinky Hair Syndrome
In vivo correction of a Menkes disease model using antisense oligonucleotides.
Menkes Kinky Hair Syndrome
Inborn errors of copper metabolism.
Menkes Kinky Hair Syndrome
Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain.
Menkes Kinky Hair Syndrome
Increased frequency of congenital heart defects in Menkes disease.
Menkes Kinky Hair Syndrome
Insights into Cu(I) exchange in HAH1 using quantum mechanical and molecular simulations.
Menkes Kinky Hair Syndrome
Intracellular localization and loss of copper responsiveness of Mnk, the murine homologue of the Menkes protein, in cells from blotchy (Mo blo) and brindled (Mo br) mouse mutants.
Menkes Kinky Hair Syndrome
Intragenic deletions at Atp7a in mouse models for Menkes disease.
Menkes Kinky Hair Syndrome
Investigation of the copper binding sites in the Menkes disease protein, ATP7A. SSIEM Award. Society of the Study of Inborn Errors of Metabolism.
Menkes Kinky Hair Syndrome
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.
Menkes Kinky Hair Syndrome
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
Menkes Kinky Hair Syndrome
L-Threo-Dihydroxyphenylserine corrects neurochemical abnormalities in a menkes disease mouse model.
Menkes Kinky Hair Syndrome
Ligand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated trafficking.
Menkes Kinky Hair Syndrome
Low function of natural killer cells in treated classic Menkes disease.
Menkes Kinky Hair Syndrome
Macrocephaly with Diffuse White Matter Changes Simulating a Leukodystrophy in Menkes Disease.
Menkes Kinky Hair Syndrome
Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein.
Menkes Kinky Hair Syndrome
Menkes copper-translocating P-type ATPase (ATP7A): biochemical and cell biology properties, and role in Menkes disease.
Menkes Kinky Hair Syndrome
Menkes disease and infantile epilepsy.
Menkes Kinky Hair Syndrome
Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Menkes Kinky Hair Syndrome
Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report.
Menkes Kinky Hair Syndrome
Menkes disease in affected females: the clinical disease spectrum.
Menkes Kinky Hair Syndrome
Menkes disease in Korea: ATP7A mutation and epilepsy phenotype.
Menkes Kinky Hair Syndrome
Menkes disease presenting with epilepsia partialis continua.
Menkes Kinky Hair Syndrome
Menkes disease with discordant phenotype in female monozygotic twins.
Menkes Kinky Hair Syndrome
Menkes disease, a diagnosis to consider in case of severe epilepsy with hyperlactacidemia: a case report.
Menkes Kinky Hair Syndrome
Menkes disease.
Menkes Kinky Hair Syndrome
Menkes disease: importance of diagnosis with molecular analysis in the neonatal period.
Menkes Kinky Hair Syndrome
Menkes disease: Oral administration of glyoxal-bis(N(4)-methylthiosemicarbazonato)-copper(II) rescues the macular mouse.
Menkes Kinky Hair Syndrome
Menkes syndrome: a case report.
Menkes Kinky Hair Syndrome
Metal-Dependent Regulation of ATP7A and ATP7B in Fibroblast Cultures.
Menkes Kinky Hair Syndrome
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Menkes Kinky Hair Syndrome
Modeling of Menkes disease via human induced pluripotent stem cells.
Menkes Kinky Hair Syndrome
Modulation of the cellular pharmacology of cisplatin and its analogs by the copper exporters ATP7A and ATP7B.
Menkes Kinky Hair Syndrome
Modulation of the cellular pharmacology of JM118, the major metabolite of satraplatin, by copper influx and efflux transporters.
Menkes Kinky Hair Syndrome
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
Menkes Kinky Hair Syndrome
Molecular and cellular aspects of copper transport in developing mammals.
Menkes Kinky Hair Syndrome
Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease.
Menkes Kinky Hair Syndrome
Molecular basis of the brindled mouse mutant (Mo(br)): a murine model of Menkes disease.
Menkes Kinky Hair Syndrome
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Menkes Kinky Hair Syndrome
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Menkes Kinky Hair Syndrome
Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.
Menkes Kinky Hair Syndrome
Molecular mechanisms of copper metabolism and the role of the Menkes disease protein.
Menkes Kinky Hair Syndrome
Mottled Mice and Non-Mammalian Models of Menkes Disease.
Menkes Kinky Hair Syndrome
Multimodal LA-ICP-MS and nanoSIMS imaging enables copper mapping within photoreceptor megamitochondria in a zebrafish model of Menkes disease.
Menkes Kinky Hair Syndrome
Multiple di-leucines in the ATP7A copper transporter are required for retrograde trafficking to the trans-Golgi network.
Menkes Kinky Hair Syndrome
Mutation analysis and expression of the mottled gene in the macular mouse model of Menkes disease.
Menkes Kinky Hair Syndrome
Mutation analysis provides additional proof that mottled is the mouse homologue of Menkes' disease.
Menkes Kinky Hair Syndrome
Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.
Menkes Kinky Hair Syndrome
Mutation spectrum of ATP7A, the gene defective in Menkes disease.
Menkes Kinky Hair Syndrome
Mutational analysis of ATP7B and genotype-phenotype correlation in Japanese with Wilson's disease.
Menkes Kinky Hair Syndrome
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Menkes Kinky Hair Syndrome
Neonatal diagnosis and treatment of Menkes disease.
Menkes Kinky Hair Syndrome
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
Menkes Kinky Hair Syndrome
Neuroimaging in Menkes Disease.
Menkes Kinky Hair Syndrome
Neuronal copper homeostasis susceptibility by genetic defects in dysbindin, a schizophrenia susceptibility factor.
Menkes Kinky Hair Syndrome
New insights into CNS requirements for the copper-ATPase, ATP7A. Focus on "Autonomous requirements of the Menkes disease protein in the nervous system".
Menkes Kinky Hair Syndrome
NMDA receptor activation mediates copper homeostasis in hippocampal neurons.
Menkes Kinky Hair Syndrome
Novel ATP7A gene mutation in a patient with Menkes disease.
Menkes Kinky Hair Syndrome
Novel membrane traffic steps regulate the exocytosis of the Menkes disease ATPase.
Menkes Kinky Hair Syndrome
Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population.
Menkes Kinky Hair Syndrome
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.
Menkes Kinky Hair Syndrome
Occipital horn syndrome and classical Menkes syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.
Menkes Kinky Hair Syndrome
Occipital Horn Syndrome as a Result of Splice Site Mutations in ATP7A. No Activity of ATP7A Splice Variants Missing Exon 10 or Exon 15.
Menkes Kinky Hair Syndrome
Occurrence of two missense mutations in Cu-ATPase of the macular mouse, a Menkes disease model.
Menkes Kinky Hair Syndrome
Oxidative damage of copper chloride overload to the cultured rat astrocytes.
Menkes Kinky Hair Syndrome
Participation of ATP7A in macrophage mediated oxidation of low density lipoprotein.
Menkes Kinky Hair Syndrome
Perinatal Copper Deficiency Alters Rat Cerebellar Purkinje Cell Size and Distribution.
Menkes Kinky Hair Syndrome
PET Imaging Analysis with 64Cu in Disulfiram Treatment for Aberrant Copper Biodistribution in Menkes Disease Mouse Model.
Menkes Kinky Hair Syndrome
Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease.
Menkes Kinky Hair Syndrome
Phenotypic convergence of Menkes and Wilson disease.
Menkes Kinky Hair Syndrome
Phenotypic diversity of Menkes disease in mottled mice is associated with defects in localisation and trafficking of the ATP7A protein.
Menkes Kinky Hair Syndrome
Phosphorylation regulates copper-responsive trafficking of the Menkes copper transporting P-type ATPase.
Menkes Kinky Hair Syndrome
Pituitary adenylyl cyclase-activating peptides and alpha-amidation in olfactory neurogenesis and neuronal survival in vitro.
Menkes Kinky Hair Syndrome
Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).
Menkes Kinky Hair Syndrome
Pretranslational control of Menkes disease gene expression.
Menkes Kinky Hair Syndrome
Quantitative relationship between mutated amino-acid sequence of human copper-transporting ATPases and their related diseases.
Menkes Kinky Hair Syndrome
Rapid and robust screening of the Menkes disease/occipital horn syndrome gene.
Menkes Kinky Hair Syndrome
Rare Disease Mechanisms Identified by Genealogical Proteomics of Copper Homeostasis Mutant Pedigrees.
Menkes Kinky Hair Syndrome
Recurrent spontaneous subserosal hematoma of ileum causing intestinal obstruction in a patient with menkes disease: A case report.
Menkes Kinky Hair Syndrome
Relative Efficiencies of Plasma Catechol Levels and Ratios for Neonatal Diagnosis of Menkes Disease.
Menkes Kinky Hair Syndrome
Report of a novel ATP7A mutation causing distal motor neuropathy.
Menkes Kinky Hair Syndrome
Role of copper transporters in copper homeostasis.
Menkes Kinky Hair Syndrome
Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity.
Menkes Kinky Hair Syndrome
Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A.
Menkes Kinky Hair Syndrome
Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.
Menkes Kinky Hair Syndrome
Small amounts of functional ATP7A protein permit mild phenotype.
Menkes Kinky Hair Syndrome
Solution Structure and Intermolecular Interactions of the Third Metal-binding Domain of ATP7A, the Menkes Disease Protein.
Menkes Kinky Hair Syndrome
Solution structures of the reduced and Cu(I) bound forms of the first metal binding sequence of ATP7A associated with Menkes disease.
Menkes Kinky Hair Syndrome
Somatic mosaicism in Menkes disease suggests choroid plexus-mediated copper transport to the developing brain.
Menkes Kinky Hair Syndrome
Splice site mutations in the ATP7A gene.
Menkes Kinky Hair Syndrome
Studies on endocytic mechanisms of the menkes copper-translocating P-type ATPase (ATP7A; MNK). Endocytosis of the menkes protein.
Menkes Kinky Hair Syndrome
Successful early copper therapy in menkes disease associated with a mutant transcript containing a small In-frame deletion.
Menkes Kinky Hair Syndrome
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.
Menkes Kinky Hair Syndrome
Targeted next generation sequencing for newborn screening of Menkes disease.
Menkes Kinky Hair Syndrome
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
Menkes Kinky Hair Syndrome
The cell biology of the Menkes disease protein.
Menkes Kinky Hair Syndrome
The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum.
Menkes Kinky Hair Syndrome
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Menkes Kinky Hair Syndrome
The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis.
Menkes Kinky Hair Syndrome
The Lumenal Loop Met672-Pro707 of Copper-transporting ATPase ATP7A Binds Metals and Facilitates Copper Release from the Intramembrane Sites.
Menkes Kinky Hair Syndrome
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Menkes Kinky Hair Syndrome
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
Menkes Kinky Hair Syndrome
The Menkes copper transporter is required for the activation of tyrosinase.
Menkes Kinky Hair Syndrome
The Menkes protein (ATP7A; MNK) cycles via the plasma membrane both in basal and elevated extracellular copper using a C-terminal di-leucine endocytic signal.
Menkes Kinky Hair Syndrome
The mild form of menkes disease: a 34 year progress report on the original case.
Menkes Kinky Hair Syndrome
The molecular and cellular basis of copper dysregulation and its relationship with human pathologies.
Menkes Kinky Hair Syndrome
The mottled gene is the mouse homologue of the Menkes disease gene.
Menkes Kinky Hair Syndrome
The mottled mouse as a model for human Menkes disease: identification of mutations in the Atp7a gene.
Menkes Kinky Hair Syndrome
The regulation of catalytic activity of the menkes copper-translocating P-type ATPase. Role of high affinity copper-binding sites.
Menkes Kinky Hair Syndrome
The role of insufficient copper in lipid synthesis and fatty-liver disease.
Menkes Kinky Hair Syndrome
The SLC31 (Ctr) copper transporter family.
Menkes Kinky Hair Syndrome
The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation.
Menkes Kinky Hair Syndrome
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene.
Menkes Kinky Hair Syndrome
The yeast CLC chloride channel functions in cation homeostasis.
Menkes Kinky Hair Syndrome
Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.
Menkes Kinky Hair Syndrome
Translational research investigations on ATP7A: an important human copper ATPase.
Menkes Kinky Hair Syndrome
Twenty-five novel mutations including duplications in the ATP7A gene.
Menkes Kinky Hair Syndrome
Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
Menkes Kinky Hair Syndrome
Visual diagnosis: 8-day-old hypotonic newborn with sparse hair.
Menkes Kinky Hair Syndrome
Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
Menkes Kinky Hair Syndrome
Wilson disease and related copper disorders.
Menkes Kinky Hair Syndrome
Wilson disease.
Menkes Kinky Hair Syndrome
X-linked Menkes disease: first documented report of germ-line mosaicism.
Menkes Kinky Hair Syndrome
X-linked recessive Menkes disease: carrier detection in the case of a partial gene deletion.
Menkes Kinky Hair Syndrome
X-linked recessive Menkes disease: identification of partial gene deletions in affected males.
Menkes Kinky Hair Syndrome
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Menkes Kinky Hair Syndrome
[Analysis of clinical features and genetic mutations in a Chinese family affected with Menkes disease].
Menkes Kinky Hair Syndrome
[Biological regulation of copper and selective removal of copper: therapy for Wilson disease and its molecular mechanism]
Menkes Kinky Hair Syndrome
[Clinical and ATP7A gene analysis of three infants with Menkes disease and prenatal diagnosis for a fetus at risk].
Menkes Kinky Hair Syndrome
[Clinical and laboratory features of the Menkes disease]
Menkes Kinky Hair Syndrome
[Copper metabolism and genetic disorders].
Menkes Kinky Hair Syndrome
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect]
Menkes Kinky Hair Syndrome
[Genetic analysis of a male infant with Menkes disease].
Menkes Kinky Hair Syndrome
[Hypomelanoses transmitted from generation to generation].
Menkes Kinky Hair Syndrome
[Mice with mottled mutation--a model for defective copper metabolism in humans]
Menkes Kinky Hair Syndrome
[Pedigree study and analysis of ATP7A gene variants in three children with Menkes disease].
Menkes Kinky Hair Syndrome
[The role of the yolk sac in copper metabolism during rat embryogenesis]
Menkes Kinky Hair Syndrome
[West syndrome as an epileptic presentation in Menkes' disease. Two cases report]
Mental Retardation, X-Linked
22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.
Metabolic Diseases
Adipocyte-specific disruption of ATPase copper transporting ? in mice accelerates lipoatrophy.
Metabolic Diseases
Copper Transporter ATP7A Protects Against Endothelial Dysfunction in Type I Diabetic Mice by Regulating Extracellular Superoxide Dismutase.
Metabolic Diseases
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
Metabolic Diseases
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Metabolic Diseases
[Structure and function of ATP7A and ATP7B proteins--Cu-transporting ATPases].
Metabolism, Inborn Errors
Investigation of the copper binding sites in the Menkes disease protein, ATP7A. SSIEM Award. Society of the Study of Inborn Errors of Metabolism.
Motor Neuron Disease
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Movement Disorders
A case of Wilson disease with the ATP7B mutation presenting movement disorders.
Movement Disorders
Hereditary parkinsonism: Parkinson disease look-alikes-An algorithm for clinicians to "PARK" genes and beyond.
Movement Disorders
Hypoceruloplasminemia-related movement disorder without Kayser-Fleischer rings is different from Wilson disease and not involved in ATP7B mutation.
Mucopolysaccharidosis III
[A patient with Sanfilippo syndrome type B and Wilson disease born to unrelated parents]
Muscle Hypotonia
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
Muscle Hypotonia
Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity.
Muscle Hypotonia
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Muscle Spasticity
Mitochondria and degenerative disorders.
Muscle Weakness
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.
Muscular Atrophy
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Muscular Atrophy, Spinal
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
Muscular Atrophy, Spinal
Conditional knockout of the menkes disease copper transporter demonstrates its critical role in embryogenesis.
Muscular Atrophy, Spinal
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Mycoses
Role of CTR4 in the Virulence of Cryptococcus neoformans.
Neoplasm Metastasis
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Neoplasm Metastasis
Expression of ATP7B in human gastric cardiac carcinomas in comparison with distal gastric carcinomas.
Neoplasm Metastasis
Roles and mechanisms of copper transporting ATPases in cancer pathogenesis.
Neoplasms
A Chinese herbal Formula, Chang-Wei-Qin, Synergistically Enhances Antitumor Effect of Oxaliplatin.
Neoplasms
A Dose Escalation Study of Trientine Plus Carboplatin and Pegylated Liposomal Doxorubicin in Women With a First Relapse of Epithelial Ovarian, Tubal, and Peritoneal Cancer Within 12 Months After Platinum-Based Chemotherapy.
Neoplasms
A Role for The ATP7A Copper Transporter in Tumorigenesis and Cisplatin Resistance.
Neoplasms
Activity and Trafficking of Copper-Transporting ATPases in Tumor Development and Defense against Platinum-Based Drugs.
Neoplasms
Ammonium tetrathiomolybdate enhances the antitumor effect of cisplatin via the suppression of ATPase copper transporting beta in head and neck squamous cell carcinoma.
Neoplasms
Ammonium tetrathiomolybdate treatment targets the copper transporter ATP7A and enhances sensitivity of breast cancer to cisplatin.
Neoplasms
An all-atom model of the structure of human copper transporter 1.
Neoplasms
Assessment of the Relation between the Expression of Oxaliplatin Transporters in Colorectal Cancer and Response to FOLFOX-4 Adjuvant Chemotherapy: A Case Control Study.
Neoplasms
Association of ATP7A expression and in vitro sensitivity to cisplatin in non-small cell lung cancer.
Neoplasms
ATP7A delivers copper to the lysyl oxidase family of enzymes and promotes tumorigenesis and metastasis.
Neoplasms
ATP7B expression confers multidrug resistance through drug sequestration.
Neoplasms
ATP7B expression in human glioblastoma is related to temozolomide resistance.
Neoplasms
ATP7B expression is associated with in vitro sensitivity to cisplatin in non-small cell lung cancer.
Neoplasms
Cancer Pro-oxidant Therapy Through Copper Redox Cycling: Repurposing Disulfiram and Tetrathiomolybdate.
Neoplasms
Cisplatin handover between copper transporters: the effect of reducing agents.
Neoplasms
Combinations of platinums and selected phytochemicals as a means of overcoming resistance in ovarian cancer.
Neoplasms
Copper chaperone Atox1 interacts with the metal-binding domain of Wilson's disease protein in cisplatin detoxification.
Neoplasms
Copper efflux transporters ATP7A and ATP7B: Novel biomarkers for platinum drug resistance and targets for therapy.
Neoplasms
Copper egress is induced by PMA in human THP-1 monocytic cell line.
Neoplasms
Copper transport systems are involved in multidrug resistance and drug transport.
Neoplasms
Copper transporter 1 affinity as a delivery strategy to improve the cytotoxic profile of rationally designed copper(II) complexes for cancer treatment.
Neoplasms
Copper Transporter 2 (CTR2) regulates endocytosis and controls tumor growth and sensitivity to cisplatin in vivo.
Neoplasms
Copper transporters and the cellular pharmacology of the platinum-containing cancer drugs.
Neoplasms
Copper transporters regulate the cellular pharmacology and sensitivity to Pt drugs.
Neoplasms
Copper-dependent ATP7B up-regulation drives the resistance of TMEM16A-overexpressing head-and-neck cancer models to platinum toxicity.
Neoplasms
Copper-transporting P-type adenosine triphosphatase (ATP7B) is associated with cisplatin resistance.
Neoplasms
Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human breast carcinoma.
Neoplasms
Copper-transporting P-type adenosine triphosphatase (ATP7B) is expressed in human gastric carcinoma.
Neoplasms
Copper-transporting P-type ATPase, ATP7A, confers multidrug resistance and its expression is related to resistance to SN-38 in clinical colon cancer.
Neoplasms
Effects of Salvia miltiorrhiza extract on lung adenocarcinoma.
Neoplasms
Exploratory study of carboplatin plus the copper-lowering agent trientine in patients with advanced malignancies.
Neoplasms
Expression of ATP7A in esophageal squamous cell carcinoma (ESCC) and its clinical significance.
Neoplasms
Expression of ATP7B in human gastric cardiac carcinomas in comparison with distal gastric carcinomas.
Neoplasms
Expression of ATP7B in normal human liver.
Neoplasms
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a chemoresistance marker in human oral squamous cell carcinoma treated with cisplatin.
Neoplasms
Expression of the copper transporters hCtr1, ATP7A and ATP7B is associated with the response to chemotherapy and survival time in patients with resected non-small cell lung cancer.
Neoplasms
FGF13 Enhances Resistance to Platinum Drugs by Regulating hCTR1 and ATP7A via a Microtubule-Stabilizing Effect.
Neoplasms
Genetic polymorphisms of copper- and platinum drug-efflux transporters ATP7A and ATP7B in Japanese cancer patients.
Neoplasms
High resolution analysis of DNA copy-number aberrations of chromosomes 8, 13, and 20 in gastric cancers.
Neoplasms
High tumor uptake of (64)Cu: Implications for molecular imaging of tumor characteristics with copper-based PET tracers.
Neoplasms
HUMAN COPPER TRANSPORTER ATP7B (WILSON DISEASE PROTEIN) FORMS STABLE DIMERS IN VITRO AND IN CELLS.
Neoplasms
In vivo [64Cu]CuCl2 PET imaging reveals activity of Dextran-Catechin on tumor copper homeostasis.
Neoplasms
Increase in expression of the copper transporter ATP7A during platinum drug-based treatment is associated with poor survival in ovarian cancer patients.
Neoplasms
Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.
Neoplasms
Intratumoral Copper Modulates PD-L1 Expression and Influences Tumor Immune Evasion.
Neoplasms
iTRAQ-based quantitative proteomic analysis provides insight for molecular mechanism of neuroticism.
Neoplasms
Mechanism of tumor resistance to cisplatin mediated by the copper transporter ATP7B.
Neoplasms
Mechanistic Basis for Overcoming Platinum Resistance Using Copper Chelating Agents.
Neoplasms
Mechanistic basis of a combination D-penicillamine and platinum drugs synergistically inhibits tumor growth in oxaliplatin-resistant human cervical cancer cells in vitro and in vivo.
Neoplasms
miR-133a enhances the sensitivity of Hep-2 cells and vincristine-resistant Hep-2v cells to cisplatin by downregulating ATP7B expression.
Neoplasms
miR-139 Controls Viability Of Ovarian Cancer Cells Through Apoptosis Induction And Exosome Shedding Inhibition By Targeting ATP7A.
Neoplasms
Nanoparticle-mediated delivery of multinuclear platinum(IV) prodrugs with enhanced drug uptake and the activity of overcoming drug resistance.
Neoplasms
NEAT1 acts as an inducer of cancer stem cell-like phenotypes in NSCLC by inhibiting EGCG-upregulated CTR1.
Neoplasms
No prevention of liver and kidney tumors in Long-Evans Cinnamon rats by dietary curcumin, but inhibition at other sites and of metastases.
Neoplasms
PET of human prostate cancer xenografts in mice with increased uptake of 64CuCl2.
Neoplasms
Preclinical PET imaging study of lung cancer with 64CuCl2.
Neoplasms
Predictive and prognostic value of human copper transporter 1 (hCtr1) in patients with stage III non-small-cell lung cancer receiving first-line platinum-based doublet chemotherapy.
Neoplasms
Prognostic value of copper transporter 1 expression in patients with clear cell renal cell carcinoma.
Neoplasms
Prognostic value of the Cu-transporting ATPase in ovarian carcinoma patients receiving cisplatin-based chemotherapy.
Neoplasms
Progress in developing MNK inhibitors.
Neoplasms
Rapid diagnosis of cisplatin-sensitive and resistant cervical squamous cell carcinomas by reverse transcription loop-mediated isothermal amplification.
Neoplasms
Reduced 64Cu Uptake and Tumor Growth Inhibition by Knockdown of Human Copper Transporter 1 in Xenograft Mouse Model of Prostate Cancer.
Neoplasms
Role of the copper transporter, CTR1, in platinum-induced ototoxicity.
Neoplasms
Role of the human high-affinity copper transporter in copper homeostasis regulation and Cisplatin sensitivity in cancer chemotherapy.
Neoplasms
Role of transporters in the distribution of platinum-based drugs.
Neoplasms
Roles and mechanisms of copper transporting ATPases in cancer pathogenesis.
Neoplasms
Solution structure of the N-domain of Wilson disease protein: Distinct nucleotide-binding environment and effects of disease mutations.
Neoplasms
SOX9/miR-130a/CTR1 axis modulates DDP-resistance of cervical cancer cell.
Neoplasms
Synthetic Lethality Screening Identifies FDA-Approved Drugs that Overcome ATP7B-Mediated Tolerance of Tumor Cells to Cisplatin.
Neoplasms
TAp73 regulates ATP7A: possible implications for ageing-related diseases.
Neoplasms
Targeting ATP7A to Increase the Sensitivity of Neuroblastoma Cells to Retinoid Therapy.
Neoplasms
Targeting copper metabolism to defeat KRAS-driven colorectal cancer.
Neoplasms
Targeting the Copper Transport System to Improve Treatment Efficacies of Platinum-Containing Drugs in Cancer Chemotherapy.
Neoplasms
The association between copper transporters and the prognosis of cancer patients undergoing chemotherapy: a meta-analysis of literatures and datasets.
Neoplasms
The copper export pump ATP7B modulates the cellular pharmacology of carboplatin in ovarian carcinoma cells.
Neoplasms
The role of copper transporter ATP7A in platinum-resistance of esophageal squamous cell cancer (ESCC).
Neoplasms
Theranostics of Malignant Melanoma with 64CuCl2.
Neoplasms
Therapeutic Targeting of ATP7B in Ovarian Carcinoma.
Neoplasms
Tumor-Specific ONOO- Nanogenerator for Improved Drug Delivery and Enhanced Chemotherapy of Tumor.
Neoplasms
[Inhibition of Copper Transporter-1 by Ammonium Tetrathiocarbolybdate in the Treatment of Pancreatic Cancer].
Neoplasms, Squamous Cell
The role of copper transporter ATP7A in platinum-resistance of esophageal squamous cell cancer (ESCC).
Nervous System Diseases
ATP7A and ATP7B copper transporters have distinct functions in the regulation of neuronal dopamine-?-hydroxylase.
Nervous System Diseases
[Present status of diagnosis and treatment of hepatolenticular degeneration].
Neuroblastoma
ATP7A is a novel target of retinoic acid receptor beta2 in neuroblastoma cells.
Neuroblastoma
Dextran-Catechin: An anticancer chemically-modified natural compound targeting copper that attenuates neuroblastoma growth.
Neuroblastoma
In vivo [64Cu]CuCl2 PET imaging reveals activity of Dextran-Catechin on tumor copper homeostasis.
Neuroblastoma
Targeting ATP7A to Increase the Sensitivity of Neuroblastoma Cells to Retinoid Therapy.
Neurocutaneous Syndromes
Polarized sorting of the copper transporter ATP7B in neurons mediated by recognition of a dileucine signal by AP-1.
Neurodegenerative Diseases
A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment.
Neurodegenerative Diseases
A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.
Neurodegenerative Diseases
A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease.
Neurodegenerative Diseases
An Unusual Presentation of Menkes Disease Masquerading as a Leukodystrophy with Macrocephaly.
Neurodegenerative Diseases
ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis.
Neurodegenerative Diseases
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
Neurodegenerative Diseases
Autonomous requirements of the Menkes disease protein in the nervous system.
Neurodegenerative Diseases
Biochemical characterization and intracellular localization of the Menkes disease protein.
Neurodegenerative Diseases
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.
Neurodegenerative Diseases
Clinical outcomes in Menkes disease patients with a copper-responsive ATP7A mutation, G727R.
Neurodegenerative Diseases
Copper homeostasis in the CNS: a novel link between the NMDA receptor and copper homeostasis in the hippocampus.
Neurodegenerative Diseases
Downregulation of myelination, energy, and translational genes in Menkes disease brain.
Neurodegenerative Diseases
Effect of copper and disulfiram combination therapy on the macular mouse, a model of Menkes disease.
Neurodegenerative Diseases
Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.
Neurodegenerative Diseases
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Neurodegenerative Diseases
Identification of a novel mutation in the ATP7A gene in a Korean patient with Menkes disease.
Neurodegenerative Diseases
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
Neurodegenerative Diseases
In vivo correction of a Menkes disease model using antisense oligonucleotides.
Neurodegenerative Diseases
Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain.
Neurodegenerative Diseases
Kinky Hair, Kinky Vessels, and Bladder Diverticula in Menkes Disease.
Neurodegenerative Diseases
L-Threo-Dihydroxyphenylserine corrects neurochemical abnormalities in a menkes disease mouse model.
Neurodegenerative Diseases
Maternofetal and neonatal copper requirements revealed by enterocyte-specific deletion of the Menkes disease protein.
Neurodegenerative Diseases
Menkes disease and infantile epilepsy.
Neurodegenerative Diseases
Menkes disease presenting with epilepsia partialis continua.
Neurodegenerative Diseases
Menkes protein localization in rat parotid acinar cells.
Neurodegenerative Diseases
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Neurodegenerative Diseases
Molecular diagnosis of Menkes disease: genotype-phenotype correlation.
Neurodegenerative Diseases
Mutation in the CPC motif-containing 6th transmembrane domain affects intracellular localization, trafficking and copper transport efficiency of ATP7A protein in mosaic mutant mice--an animal model of Menkes disease.
Neurodegenerative Diseases
Neonatal diagnosis and treatment of Menkes disease.
Neurodegenerative Diseases
Neuroimaging in Menkes Disease.
Neurodegenerative Diseases
NMDA receptor activation mediates copper homeostasis in hippocampal neurons.
Neurodegenerative Diseases
Novel ATP7A gene mutation in a patient with Menkes disease.
Neurodegenerative Diseases
Overexpression of Copper Transporter CTR1 in the Brain Barrier of North Ronaldsay Sheep: Implications for the Study of Neurodegenerative Disease.
Neurodegenerative Diseases
Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease.
Neurodegenerative Diseases
Prenatal Treatment of Mosaic Mice (Atp7a mo-ms) Mouse Model for Menkes Disease, with Copper Combined by Dimethyldithiocarbamate (DMDTC).
Neurodegenerative Diseases
Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity.
Neurodegenerative Diseases
Solution structure of the N-domain of Wilson disease protein: Distinct nucleotide-binding environment and effects of disease mutations.
Neurodegenerative Diseases
Successful early copper therapy in menkes disease associated with a mutant transcript containing a small In-frame deletion.
Neurodegenerative Diseases
The copper-transporting ATPases, menkes and wilson disease proteins, have distinct roles in adult and developing cerebellum.
Neurodegenerative Diseases
The developmentally regulated expression of Menkes protein ATP7A suggests a role in axon extension and synaptogenesis.
Neurodegenerative Diseases
The Lumenal Loop Met672-Pro707 of Copper-transporting ATPase ATP7A Binds Metals and Facilitates Copper Release from the Intramembrane Sites.
Neurodegenerative Diseases
The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.
Neurodegenerative Diseases
The mild form of menkes disease: a 34 year progress report on the original case.
Neurodegenerative Diseases
Wilson's disease and other neurological copper disorders.
Neurodegenerative Diseases
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Neurodegenerative Diseases
[West syndrome as an epileptic presentation in Menkes' disease. Two cases report]
Neuroinflammatory Diseases
Dysregulated copper transport in multiple sclerosis may cause demyelination via astrocytes.
Neurologic Manifestations
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Neurologic Manifestations
Homozygosity for a gross partial gene deletion of the C-terminal end of ATP7B in a Wilson patient with hepatic and no neurological manifestations.
Neurologic Manifestations
Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation.
Neurologic Manifestations
Identification of two novel mutations in the ATP7B gene that cause Wilson's disease.
Neurologic Manifestations
Long-term metabolic correction of Wilson's disease in a murine model by gene therapy.
Neurologic Manifestations
Modeling of Menkes disease via human induced pluripotent stem cells.
Neurologic Manifestations
Neurological manifestations and ATP7B mutations in Wilson's disease.
Neurologic Manifestations
Wilson disease.
Nocturnal Enuresis
Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.
Obesity
Disabling MNK protein kinases promotes oxidative metabolism and protects against diet-induced obesity.
Obesity
Targeted inactivation of copper transporter Atp7b in hepatocytes causes liver steatosis and obesity in mice.
Ornithine Carbamoyltransferase Deficiency Disease
Liver failure with coagulopathy, hyperammonemia and cyclic vomiting in a toddler revealed to have combined heterozygosity for genes involved with ornithine transcarbamylase deficiency and Wilson disease.
Osteosarcoma
Oleandrin sensitizes human osteosarcoma cells to cisplatin by preventing degradation of the copper transporter 1.
Osteosarcoma
PTBP1 modulates osteosarcoma chemoresistance to cisplatin by regulating the expression of the copper transporter SLC31A1.
Ototoxicity
Role of the copper transporter, CTR1, in platinum-induced ototoxicity.
Ovarian Neoplasms
ATP7B antisense oligodeoxynucleotides increase the cisplatin sensitivity of human ovarian cancer cell line SKOV3ipl.
Ovarian Neoplasms
Dual role of LRRC8A-containing transporters on cisplatin resistance in human ovarian cancer cells.
Ovarian Neoplasms
Genetic polymorphisms and gene-dosage effect in ovarian cancer risk and response to paclitaxel/cisplatin chemotherapy.
Ovarian Neoplasms
Increase in expression of the copper transporter ATP7A during platinum drug-based treatment is associated with poor survival in ovarian cancer patients.
Ovarian Neoplasms
Increased expression of the copper efflux transporter ATP7A mediates resistance to cisplatin, carboplatin, and oxaliplatin in ovarian cancer cells.
Ovarian Neoplasms
Increased levels of copper efflux transporter ATP7B are associated with poor outcome in colorectal cancer patients receiving oxaliplatin-based chemotherapy.
Ovarian Neoplasms
Mechanistic Basis for Overcoming Platinum Resistance Using Copper Chelating Agents.
Ovarian Neoplasms
miR-139 Controls Viability Of Ovarian Cancer Cells Through Apoptosis Induction And Exosome Shedding Inhibition By Targeting ATP7A.
Ovarian Neoplasms
MircroRNA-139 sensitizes ovarian cancer cell to cisplatin-based chemotherapy through regulation of ATP7A/B.
Ovarian Neoplasms
Overexpression of the RNA-binding proteins Lin28B and IGF2BP3 (IMP3) is associated with chemoresistance and poor disease outcome in ovarian cancer.
Ovarian Neoplasms
The contribution of copper efflux transporters ATP7A and ATP7B to chemoresistance and personalized medicine in ovarian cancer.
Ovarian Neoplasms
Theaflavin-3,3'-Digallate Enhances the Inhibitory Effect of Cisplatin by Regulating the Copper Transporter 1 and Glutathione in Human Ovarian Cancer Cells.
Ovarian Neoplasms
Therapeutic Targeting of ATP7B in Ovarian Carcinoma.
p-type cu2+ transporter deficiency
A murine model of Menkes disease reveals a physiological function of metallothionein.
p-type cu2+ transporter deficiency
Activation of HIF-1 signaling ameliorates liver steatosis in zebrafish atp7b deficiency (Wilson's disease) models.
p-type cu2+ transporter deficiency
ATP7A (Menkes protein) functions in axonal targeting and synaptogenesis.
p-type cu2+ transporter deficiency
Development of cell therapy strategies to overcome copper toxicity in the LEC rat model of Wilson disease.
p-type cu2+ transporter deficiency
Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease.
p-type cu2+ transporter deficiency
Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.
p-type cu2+ transporter deficiency
PET with 64Cu-histidine for noninvasive diagnosis of biliary copper excretion in Long-Evans cinnamon rat model of Wilson disease.
p-type cu2+ transporter deficiency
Production of LPS-induced inflammatory mediators in murine peritoneal macrophages: neocuproine as a broad inhibitor and ATP7A as a selective regulator.
Parkinson Disease
Case of Early-Onset Parkinson's Disease in a Heterozygous Mutation Carrier of the ATP7B Gene.
Parkinson Disease
Copper and Copper Proteins in Parkinson's Disease.
Parkinson Disease
Inhibition of copper transporter 1 prevents ?-synuclein pathology and alleviates nigrostriatal degeneration in AAV-based mouse model of Parkinson's disease.
Parkinson Disease
Prevalence of the H1069Q mutation in ATP7B in discordant pairs with early-onset Parkinson's disease.
Parkinson Disease
Specific recognition, intracellular assay and detoxification of fluorescent curcumin derivative for copper ions.
Parkinson Disease
Wilson's disease and other neurological copper disorders.
Parkinsonian Disorders
Three sisters with very-late-onset major depression and parkinsonism.
Phenylketonurias
[Hypomelanoses transmitted from generation to generation].
Porphyrias
Liver Failure of Wilson's Disease With Manifestations Similar to Porphyria and Uncommon ATP7B Gene Mutation: A Case Report and Literature Review.
Prion Diseases
Disruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion disease.
Prostatic Neoplasms
Copper as a target for prostate cancer therapeutics: copper-ionophore pharmacology and altering systemic copper distribution.
Prostatic Neoplasms
Copper signaling axis as a target for prostate cancer therapeutics.
Prostatic Neoplasms
PET of human prostate cancer xenografts in mice with increased uptake of 64CuCl2.
Prostatic Neoplasms
Reduced 64Cu Uptake and Tumor Growth Inhibition by Knockdown of Human Copper Transporter 1 in Xenograft Mouse Model of Prostate Cancer.
Protein Deficiency
Regulation of murine copper homeostasis by members of the COMMD protein family.
Renal Insufficiency
Specific recognition, intracellular assay and detoxification of fluorescent curcumin derivative for copper ions.
Salmonella Infections
Host and Pathogen Copper-Transporting P-Type ATPases Function Antagonistically during Salmonella Infection.
Sarcoma, Yoshida
Inactivation of (Na-++K-+)-stimulated ATPase by a cytotoxic protein from cobra venom in relation to its lytic effects on cells.
Seizures
Autonomous requirements of the Menkes disease protein in the nervous system.
Seizures
Copper-replacement treatment for symptomatic Menkes disease: ethical considerations.
Seizures
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Seizures
Role of the Menkes copper-transporting ATPase in NMDA receptor-mediated neuronal toxicity.
Seizures
X-linked spinal muscular atrophy in mice caused by autonomous loss of ATP7A in the motor neuron.
Skin Abnormalities
Favorably skewed X-inactivation accounts for neurological sparing in female carriers of Menkes disease.
Small Cell Lung Carcinoma
Predictive Value of BRCA1, ERCC1, ATP7B, PKM2, TOPOI, TOP?-IIA, TOPOIIB and C-MYC Genes in Patients with Small Cell Lung Cancer (SCLC) Who Received First Line Therapy with Cisplatin and Etoposide.
Spinal Cord Diseases
Mutation in the ATP7A gene may not be responsible for hypocupraemia in copper deficiency myelopathy.
Squamous Cell Carcinoma of Head and Neck
Ammonium tetrathiomolybdate enhances the antitumor effect of cisplatin via the suppression of ATPase copper transporting beta in head and neck squamous cell carcinoma.
Squamous Cell Carcinoma of Head and Neck
Expression of copper-transporting P-type adenosine triphosphatase (ATP7B) as a chemoresistance marker in human oral squamous cell carcinoma treated with cisplatin.
Squamous Cell Carcinoma of Head and Neck
Mutation analysis of copper-transporting P-type adenosine triphosphatase (ATP7B) in human solid carcinomas.
Starvation
Low-affinity copper transporter CTR2 is regulated by copper-sensing transcription factor Mac1p in Saccharomyces cerevisiae.
Starvation
Mechanism of silver nanoparticles action on insect pigmentation reveals intervention of copper homeostasis.
Synucleinopathies
Inhibition of copper transporter 1 prevents ?-synuclein pathology and alleviates nigrostriatal degeneration in AAV-based mouse model of Parkinson's disease.
Tics
Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.
Tremor
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report.
Triple Negative Breast Neoplasms
Impact of Expression Levels of Platinum-uptake Transporters Copper Transporter 1 and Organic Cation Transporter 2 on Resistance to Anthracycline/Taxane-based Chemotherapy in Triple-negative Breast Cancer.
Tuberculosis
Metal ion homeostasis and intracellular parasitism.
Urinary Bladder Neoplasms
Human bladder cancer cells undergo cisplatin-induced apoptosis that is associated with p53-dependent and p53-independent responses.
Urinary Bladder Neoplasms
Utility of ATP7B in Prediction of Response to Platinum-based Chemotherapy in Urothelial Bladder Cancer.
Vascular Diseases
Copper Transporter ATP7A (Copper-Transporting P-Type ATPase/Menkes ATPase) Limits Vascular Inflammation and Aortic Aneurysm Development: Role of MicroRNA-125b.
Vascular System Injuries
Copper transporter ATP7A interacts with IQGAP1, a Rac1 binding scaffolding protein: role in PDGF-induced VSMC migration and vascular remodeling.
Wolfram Syndrome
A case of a mild Wolfram Syndrome with concomitant ATP7B mutation.
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