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Disease on EC 7.2.2.14 - P-type Mg2+ transporter

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis
Protonic inhibition of the mitochondrial oligomycin-sensitive adenosine 5'-triphosphatase in ischemic and autolyzing cardiac muscle. Possible mechanism for the mitigation of ATP hydrolysis under nonenergizing conditions.
Adenocarcinoma
Magnesium transporter protein solute carrier family 41 member 1 suppresses human pancreatic ductal adenocarcinoma through magnesium-dependent Akt/mTOR inhibition and bax-associated mitochondrial apoptosis.
Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.
Amelogenesis Imperfecta
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
Blindness
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Carcinogenesis
Adenosine triphosphatase, a new marker for the differentiation of putative precancerous foci induced in rat pancreas by azaserine.
The protein tyrosine phosphatase PRL-2 interacts with the magnesium transporter CNNM3 to promote oncogenesis.
Carcinoma
Adenosine triphosphatases as histochemical markers for the cell of origin in experimental mammary carcinoma.
Changes of adenosinetriphosphatase (ATPase) activities in lymphocytes from patients with carcinomas of the gastrointestinal tract.
Elevated activity of oligomycin-sensitive ATPase in lymphocytes from patients with lung carcinoma.
NIPA-like domain containing 1 is a novel tumor-promoting factor in oral squamous cell carcinoma.
The different expression of TRPM7 and MagT1 impacts on the proliferation of colon carcinoma cells sensitive or resistant to doxorubicin.
Carcinoma, Hepatocellular
Mitochondrial ATPase of Zajdela hepatoma. V. Mitochondria of Zajdela hepatoma contain membrane sectors of ATPase complex unassociated with F1.
Up-regulation of AKAP13 and MAGT1 on cytoplasmic membrane in progressive hepatocellular carcinoma: a novel target for prognosis.
Cardiomyopathies
Abnormalities in heart membranes and myofibrils during bacterial infective cardiomyopathy in the rabbit.
Ciliopathies
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
Colonic Neoplasms
Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.
Color Vision Defects
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
Jalili syndrome presenting with situs inversus totalis and keratoconus: the first case in the Indian subcontinent.
Colorectal Neoplasms
Overexpression of MAGT1 is associated with aggressiveness and poor prognosis of colorectal cancer.
Cone-Rod Dystrophies
Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta.
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
An Update on XMEN Disease.
Coronary Disease
[The relation between oxidative processes and the glycogen content in the heart and liver of rabbits with chronic ischemic heart disease]
Diabetes Mellitus
Increased renal calcium and magnesium transporter abundance in streptozotocin-induced diabetes mellitus.
Diabetes Mellitus, Type 2
NIPA2 regulates osteoblast function by modulating mitophagy in type 2 diabetes osteoporosis.
Dysgammaglobulinemia
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
Epilepsy, Absence
Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.
Epstein-Barr Virus Infections
Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.
Magnesium in Infectious Diseases in Older People.
MAGT1 is required for HeLa cell proliferation through regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis.
MAGT1 messenger RNA-corrected autologous T and natural killer cells for potential cell therapy in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease.
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.
XMEN: welcome to the glycosphere.
Eye Diseases
Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
Fatty Liver
Magnesium accumulation upon cyclin M4 silencing activates microsomal triglyceride transfer protein improving NASH.
Genetic Diseases, Inborn
Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.
Structural basis for the Mg2+ recognition and regulation of the CorC Mg2+ transporter.
Glioma
microRNA-199a-5p suppresses glioma progression by inhibiting MAGT1.
Sevoflurane Regulates Glioma Progression by Circ_0002755/miR-628-5p/MAGT1 Axis.
Head and Neck Neoplasms
Expression of magnesium transporter genes in head and neck cancer patients underwent neoadjuvant cisplatin-based chemotherapy.
Heart Failure
Renal Ca2+ + Mg2+ ATPase in congestive heart failure due to diabetes.
Hepatolenticular Degeneration
Decreased platelet aggregation, Ca2+ and Mg2+ ATPase and platelet factor 3 activities in patients with Wilson disease.
Hydrocephalus
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
Hypertension
A study of erythrocyte membrane cation transport adenosine triphosphatases in pregnancy-induced hypertension and of in vivo effects of diuretic treatment.
Transient receptor potential melastatin 6 and 7 channels, magnesium transport, and vascular biology: implications in hypertension.
Hypertension, Pregnancy-Induced
A study of erythrocyte membrane cation transport adenosine triphosphatases in pregnancy-induced hypertension and of in vivo effects of diuretic treatment.
Hyperthyroidism
Thyroid hormone effects on the proton permeability of rat liver mitochondria.
Infections
A Translation-Aborting Small Open Reading Frame in the Intergenic Region Promotes Translation of a Mg2+ Transporter in Salmonella Typhimurium.
Abnormalities in heart membranes and myofibrils during bacterial infective cardiomyopathy in the rabbit.
An Update on XMEN Disease.
Dengue Virus Hijacks a Noncanonical Oxidoreductase Function of a Cellular Oligosaccharyltransferase Complex.
Differential expression of the plasma membrane Mg2+ ATPase and Ca2+ ATPase activity during adhesion and interiorization of Leishmania amazonensis in fibroblasts in vitro.
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
Ion channelopathies of the immune system.
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
miR-199a-5p targeted regulation of MAGT1 expression in the functional depletion of CD8+T cells in HBV infection.
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease: a combined immune deficiency with magnesium defect.
Infertility
Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.
Intellectual Disability
The role of MAGT1 in genetic syndromes.
Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes.
Kidney Diseases, Cystic
Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype.
Leber Congenital Amaurosis
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Leukemia, Lymphocytic, Chronic, B-Cell
Purification and characterization of actin from normal and chronic lymphocytic leukemia lymphocytes.
Liver Cirrhosis, Biliary
Correlation of oligomycin-sensitive ATPase activity in trypanosomes with their content of an antigen to primary biliary cirrhosis.
Lymphoma
Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D.
Signaling pathways involved in the T-cell-mediated immunity against Epstein-Barr virus: Lessons from genetic diseases.
XMEN disease: a new primary immunodeficiency affecting Mg2+ regulation of immunity against Epstein-Barr virus.
Lymphopenia
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
Magnesium Deficiency
Functional characterization of human SLC41A1, a Mg2+ transporter with similarity to prokaryotic MgtE Mg2+ transporters.
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
Molluscum Contagiosum
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
Neoplasms
Carbonate Apatite Nanoparticles-Facilitated Intracellular Delivery of siRNA(s) Targeting Calcium Ion Channels Efficiently Kills Breast Cancer Cells.
Case Report: EBV-Positive Extra-Nodal Marginal Zone Lymphoma Associated With XMEN Disease Caused by a Novel Hemizygous Mutation in MAGT1.
CFP suppresses breast cancer cell growth by TES-mediated upregulation of the transcription factor DDIT3.
Cnnm4 deficiency suppresses Ca2+ signaling and promotes cell proliferation in the colon epithelia.
Comprehensive Interactome Analysis Reveals that STT3B is Required for the N-Glycosylation of Lassa Virus Glycoprotein.
Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
FCY-302, a Novel Small Molecule, Induces Apoptosis in Leukemia and Myeloma Cells by Attenuating Key Antioxidant and Mitochondrial Enzymes.
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
Magnesium transporter protein solute carrier family 41 member 1 suppresses human pancreatic ductal adenocarcinoma through magnesium-dependent Akt/mTOR inhibition and bax-associated mitochondrial apoptosis.
MAGT1 is required for HeLa cell proliferation through regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis.
MAGT1 messenger RNA-corrected autologous T and natural killer cells for potential cell therapy in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease.
Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.
Overexpression of MAGT1 is associated with aggressiveness and poor prognosis of colorectal cancer.
Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.
The relation of magnesium and calcium intakes and a genetic polymorphism in the magnesium transporter to colorectal neoplasia risk.
Up-regulation of AKAP13 and MAGT1 on cytoplasmic membrane in progressive hepatocellular carcinoma: a novel target for prognosis.
[Some peculiarities of ATPase in tumor mitochondria]
Osteoporosis
Knockdown of SLC41A1 magnesium transporter promotes mineralization and attenuates magnesium inhibition during osteogenesis of mesenchymal stromal cells.
NIPA2 regulates osteoblast function by modulating mitophagy in type 2 diabetes osteoporosis.
Osteosarcoma
High-affinity Ca2+-stimulated and Mg2+-dependent ATPase from rat osteosarcoma plasma membranes.
p-type mg2+ transporter deficiency
An Update on XMEN Disease.
Cnnm4 deficiency suppresses Ca2+ signaling and promotes cell proliferation in the colon epithelia.
CRISPR-targeted MAGT1 insertion restores XMEN patient hematopoietic stem cells and lymphocytes.
Magnesium transporter 1 (MAGT1) deficiency causes selective defects in N-linked glycosylation and expression of immune-response genes.
MAGT1 messenger RNA-corrected autologous T and natural killer cells for potential cell therapy in X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disease.
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
Parkinson Disease
Genetic analysis of SLC41A1 in Chinese Parkinson's disease patients.
Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.
Genetic Variants in the RAB7L1 and SLC41A1 Genes of the PARK16 Locus in Chinese Parkinson's Disease Patients.
SLC41 transporters--molecular identification and functional role.
SLC41A1 and TRPM7 in magnesium homeostasis and genetic risk for Parkinson's disease.
SNPs rs11240569, rs708727, and rs823156 in SLC41A1 Do Not Discriminate Between Slovak Patients with Idiopathic Parkinson's Disease and Healthy Controls: Statistics and Machine-Learning Evidence.
Solute Carrier Family SLC41, what do we really know about it?
Substitution p.A350V in Na(+)/Mg(2+) Exchanger SLC41A1, Potentially Associated with Parkinson's Disease, Is a Gain-of-Function Mutation.
Variant R244H in Na(+)/Mg(2+) exchanger SLC41A1 in Taiwanese Parkinson's disease is associated with loss of Mg(2+) efflux function.
Persistent Infection
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
Photophobia
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.
Pre-Eclampsia
SLC41 transporters--molecular identification and functional role.
Prehypertension
Effect of oral magnesium supplementation on the transcription of TRPM6, TRPM7, and SLC41A1 in individuals newly diagnosed of pre-hypertension. A randomized, double-blind, placebo-controlled trial.
Primary Immunodeficiency Diseases
Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease.
Retinal Dystrophies
Identification of a mutation in CNNM4 by whole exome sequencing in an Amish family and functional link between CNNM4 and IQCB1.
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Salmonella Infections
Elongation factor P controls translation of the mgtA gene encoding a Mg2+ transporter during Salmonella infection.
Sarcoma, Kaposi
Large Deletion of MAGT1 Gene in a Patient with Classic Kaposi Sarcoma, CD4 Lymphopenia, and EBV Infection.
Sarcopenia
Magnesium transport and homeostasis-related gene expression in skeletal muscle of young and old adults: analysis of the transcriptomic data from the PROOF cohort Study.
Skin Abnormalities
The role of MAGT1 in genetic syndromes.
Spastic Paraplegia, Hereditary
A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter.
Squamous Cell Carcinoma of Head and Neck
NIPA-like domain containing 1 is a novel tumor-promoting factor in oral squamous cell carcinoma.
Tuberculosis
Ligand binding in the conserved interhelical loop of cora, a magnesium transporter from mycobacterium tuberculosis.
Uterine Cervical Neoplasms
MAGT1 is required for HeLa cell proliferation through regulating p21 expression, S-phase progress, and ERK/p38 MAPK MYC axis.
Vascular Diseases
Transient receptor potential melastatin 6 and 7 channels, magnesium transport, and vascular biology: implications in hypertension.
Vasculitis, Central Nervous System
Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype.
Virus Diseases
Dengue Virus Hijacks a Noncanonical Oxidoreductase Function of a Cellular Oligosaccharyltransferase Complex.
Second messenger role for Mg2+ revealed by human T-cell immunodeficiency.
Vision Disorders
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and environs.