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Pontus Gourdon et al.
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Canine models of copper toxicosis for understanding mammalian copper metabolism
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A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism
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Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking
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Oleg Y. Dmitriev et al.
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Crystal structure of a copper-transporting PIB-type ATPase
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Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein
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Truncating mutations in the Wilson disease gene ATP7B are associated with very low serum ceruloplasmin oxidase activity and an early onset of Wilson disease
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Middle-aged heterozygous carriers of Wilson's disease do not present with significant phenotypic deviations related to copper metabolism
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Apical targeting and Golgi retention signals reside within a 9-amino acid sequence in the copper-ATPase, ATP7B
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Reduced Expression of ATP7B Affected by Wilson Disease-Causing Mutations Is Rescued by Pharmacological Folding Chaperones 4-Phenylbutyrate and Curcumin
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CHARMM: The Biomolecular Simulation Program
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Monozygotic Female Twins Discordant for Phenotype of Wilson's Disease
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Metal binding domains 3 and 4 of the Wilson disease protein: solution Structure and interaction with the copper(I) chaperone HAH1
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Diagnosis and treatment of Wilson disease: An update
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Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system
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Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B
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Function and regulation of human copper-transporting ATPases
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Copper binding to the hl-terminal metal-binding sites or the CPC motif is not essential for copper-induced trafficking of the human Wilson protein (ATP7B)
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Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAM in copper uptake
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Frameshift and nonsense mutations in the gene for ATPase7B are associated with severe impairment of copper metabolism and with an early clinical manifestation of Wilson's disease
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CLINICAL GENETICS (2005)
NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells
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Involvement of chloride channels in hepatic copper metabolism: CIC-4 promotes copper incorporation into ceruloplasmin
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JOURNAL OF COMPUTATIONAL CHEMISTRY (2004)
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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
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Diagnosis and phenotypic classification of Wilson disease
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LIVER INTERNATIONAL (2003)
The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B
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JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
A copper treatable Menkes disease mutation associated with defective trafficking of a functional Menkes copper ATPase
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Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines
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An implicit membrane generalized born theory for the study of structure, stability, and interactions of membrane proteins
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Copper-regulated trafficking of the Menkes disease copper ATPase is associated with formation of a phosphorylated catalytic intermediate
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JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
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
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JOURNAL OF BIOLOGICAL CHEMISTRY (2001)
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins
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