Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system (Q46802639)

25 December 2017

title

Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system (English)

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25 December 2017

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Gloria Hsi

1

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25 December 2017

Lara M Cullen

2

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25 December 2017

Georgina Macintyre

3

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25 December 2017

Matthew M Chen

4

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25 December 2017

D Moira Glerum

5

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25 December 2017

Diane W Cox

6

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25 December 2017

publication date

1 April 2008

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25 December 2017

published in

Human Mutation

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25 December 2017

volume

29

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25 December 2017

issue

4

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25 December 2017

page(s)

491-501

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25 December 2017

Structure of human Wilson protein domains 5 and 6 and their interplay with domain 4 and the copper chaperone HAH1 in copper uptake

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Hepatic copper-transporting ATPase ATP7B: function and inactivation at the molecular and cellular level

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The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene

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Wilson disease and Menkes disease: new handles on heavy-metal transport.

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Copper 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)

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Solution structure of the N-domain of Wilson disease protein: distinct nucleotide-binding environment and effects of disease mutations

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Structural and functional insights of Wilson disease copper-transporting ATPase

21 January 2018

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Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant?

21 January 2018

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Copper-dependent trafficking of Wilson disease mutant ATP7B proteins

21 January 2018

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Sequence, mapping and disruption of CCC2, a gene that cross-complements the Ca(2+)-sensitive phenotype of csg1 mutants and encodes a P-type ATPase belonging to the Cu(2+)-ATPase subfamily.

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NH2-terminal signals in ATP7B Cu-ATPase mediate its Cu-dependent anterograde traffic in polarized hepatic cells

21 January 2018

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Identification of four novel mutations in classical Menkes disease and successful prenatal DNA diagnosis

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Aceruloplasminemia: molecular characterization of this disorder of iron metabolism

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RESPONSIVE-TO-ANTAGONIST1, a Menkes/Wilson disease-related copper transporter, is required for ethylene signaling in Arabidopsis.

21 January 2018

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Functional assessment of the carboxy-terminus of the Wilson disease copper-transporting ATPase, ATP7B.

21 January 2018

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Biochemical characterization of the Wilson disease protein and functional expression in the yeast Saccharomyces cerevisiae

21 January 2018

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Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae

21 January 2018

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Enhanced genome annotation using structural profiles in the program 3D-PSSM

21 January 2018

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Copper-dependent interaction of dynactin subunit p62 with the N terminus of ATP7B but not ATP7A

21 January 2018

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Copper-dependent interaction of glutaredoxin with the N termini of the copper-ATPases (ATP7A and ATP7B) defective in Menkes and Wilson diseases

21 January 2018

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Human copper-transporting ATPase ATP7B (the Wilson's disease protein): biochemical properties and regulation

21 January 2018

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The molecular basis of copper-transport diseases

21 January 2018

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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

21 January 2018

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SIFT: Predicting amino acid changes that affect protein function

21 January 2018

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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.

21 January 2018

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Functional expression of the menkes disease protein reveals common biochemical mechanisms among the copper-transporting P-type ATPases

21 January 2018

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Characterization of the Wilson disease gene encoding a P-type copper transporting ATPase: genomic organization, alternative splicing, and structure/function predictions

21 January 2018

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A practice guideline on Wilson disease

21 January 2018

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A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family

21 January 2018

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Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses

21 January 2018

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The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene

21 January 2018

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Biliary excretion of copper in LEC rat after introduction of copper transporting P-type ATPase, ATP7B.

21 January 2018

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The Wilson disease gene: spectrum of mutations and their consequences

21 January 2018

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Crystal structure of the calcium pump of sarcoplasmic reticulum at 2.6 A resolution

21 January 2018

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The role of the invariant His-1069 in folding and function of the Wilson's disease protein, the human copper-transporting ATPase ATP7B.

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20674

Efficient detection of mutations in Wilson disease by manifold sequencing

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20674

A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20674

The Menkes/Wilson disease gene homologue in yeast provides copper to a ceruloplasmin-like oxidase required for iron uptake

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.20674

Twenty-four novel mutations in Wilson disease patients of predominantly European ancestry

21 January 2018

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7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome

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7 January 2021

Free radicals and antioxidants in the year 2000. A historical look to the future

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

A comparison of the mutation spectra of Menkes disease and Wilson disease

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Identification of three novel mutations and a high frequency of the Arg778Leu mutation in Korean patients with Wilson disease

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Expression and mutagenesis of ZntA, a zinc-transporting P-type ATPase from Escherichia coli

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Vectors for constitutive and inducible gene expression in yeast

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Mutation spectrum of ATP7A, the gene defective in Menkes disease

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Mutations of ATP7B gene in Wilson disease in Japan: identification of nine mutations and lack of clear founder effect in a Japanese population

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https://api.crossref.org/works/10.1002%2FHUMU.20674

7 January 2021

Identifiers

DOI

10.1002/HUMU.20674

1 reference

25 December 2017

1 reference

25 December 2017