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Disease on EC 7.2.2.9 - P-type Cu2+ transporter

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