The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
about
Iron, hepcidin, and the metal connectionUrinary copper elevation in a mouse model of Wilson's disease is a regulated process to specifically decrease the hepatic copper loadCharacterization of the interaction between the Wilson and Menkes disease proteins and the cytoplasmic copper chaperone, HAH1pThe Wilson disease protein ATP7B resides in the late endosomes with Rab7 and the Niemann-Pick C1 proteinAlteration of copper physiology in mice overexpressing the human Menkes protein ATP7ACopper binding to the N-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B)COMMD1 downregulates the epithelial sodium channel through Nedd4-2Characterization of COMMD protein-protein interactions in NF-kappaB signallinghCTR1: a human gene for copper uptake identified by complementation in yeastHAH1 is a copper-binding protein with distinct amino acid residues mediating copper homeostasis and antioxidant defenseBiochemical characterization and intracellular localization of the Menkes disease proteinNeurogenetics. Triumphs and challengesLigand-regulated transport of the Menkes copper P-type ATPase efflux pump from the Golgi apparatus to the plasma membrane: a novel mechanism of regulated traffickingAceruloplasminemia: molecular characterization of this disorder of iron metabolismEndemic pemphigus foliaceus over a century: Part IMolecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypesClinical presentation, diagnosis and long-term outcome of Wilson's disease: a cohort studySex and ceruloplasmin modulate the response to copper exposure in healthy individuals.Molecular mechanism of copper transport in Wilson disease.Canine Models for Copper Homeostasis DisordersMolecular imaging and therapy targeting copper metabolism in hepatocellular carcinomaSleep and sleep disorders in rare hereditary diseases: a reminder for the pediatrician, pediatric and adult neurologist, general practitioner, and sleep specialistBiochemical characterization of P-type copper ATPasesSolution structure of the yeast copper transporter domain Ccc2a in the apo and Cu(I)-loaded statesThe ATX1 gene of Saccharomyces cerevisiae encodes a small metal homeostasis factor that protects cells against reactive oxygen toxicityThe Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake.Restriction of copper export in Saccharomyces cerevisiae to a late Golgi or post-Golgi compartment in the secretory pathway.Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?Kinetic analysis of the interaction of the copper chaperone Atox1 with the metal binding sites of the Menkes proteinX-ray absorption spectroscopy of the copper chaperone HAH1 reveals a linear two-coordinate Cu(I) center capable of adduct formation with exogenous thiols and phosphinesMolecular characterization of hCTR1, the human copper uptake proteinImmunocytochemical localization of the Menkes copper transport protein (ATP7A) to the trans-Golgi networkDisruption of copper homeostasis due to a mutation of Atp7a delays the onset of prion diseaseIdentification and functional expression of HAH1, a novel human gene involved in copper homeostasisThe copper transporter CTR1 provides an essential function in mammalian embryonic developmentDecreased carbonic anhydrase III levels in the liver of the mouse mutant 'toxic milk' (tx) due to copper accumulationThe LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease geneSupplying copper to the cuproenzyme peptidylglycine alpha-amidating monooxygenaseDefective localization of the Wilson disease protein (ATP7B) in the mammary gland of the toxic milk mouse and the effects of copper supplementationTwo forms of Wilson disease protein produced by alternative splicing are localized in distinct cellular compartments
P2860
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P2860
The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene
description
1993 nî lūn-bûn
@nan
1993 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@ast
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en-gb
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@nl
type
label
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@ast
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en-gb
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@nl
prefLabel
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@ast
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en-gb
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@nl
P2093
P2860
P356
P1433
P1476
The Wilson disease gene is a c ...... ogy to the Menkes disease gene
@en
P2093
D M Romano
J L Pellequer
K Petrukhin
L M Brzustowicz
P2860
P2888
P304
P356
10.1038/NG1293-344
P407
P577
1993-12-01T00:00:00Z
P5875
P6179
1001508933