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

Human Mutation

Volumn 29, Issue 4, 2008, Pages 491-501

  Hsi, Gloria ^a   Cullen, Lara M ^a   Macintyre, Georgina ^a   Chen, Matthew M ^a   Glerum, D Moira ^a   Cox, Diane W ^a  

^a UNIVERSITY OF ALBERTA   (Canada)

Author keywords

ATP7B; Mutation testing; Wilson disease; Yeast functional assay

Indexed keywords

ADENOSINE TRIPHOSPHATE; ASPARTIC ACID; GLUTAMIC ACID; LEUCINE; LYSINE; METHIONINE; VALINE; WILSON DISEASE PROTEIN; CCC2 PROTEIN; COPPER EXPORTING ADENOSINE TRIPHOSPHATASE; FUNGAL PROTEIN; UNCLASSIFIED DRUG; ADENOSINE TRIPHOSPHATASE; CATION TRANSPORT PROTEIN; CCC2 PROTEIN, S CEREVISIAE; CERULOPLASMIN; COPPER; FET3 PROTEIN, S CEREVISIAE; RECOMBINANT PROTEIN; SACCHAROMYCES CEREVISIAE PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CONFORMATIONAL TRANSITION; DISEASE SEVERITY; FUNCTIONAL ASSESSMENT; FUNGAL STRAIN; FUNGUS MUTANT; GENE DISRUPTION; GENETIC COMPLEMENTATION; HUMAN; IRON TRANSPORT; MAMMAL CELL; NONHUMAN; ORTHOLOGY; PHENOTYPE; PREDICTION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN CONFORMATION; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RELIABILITY; SEQUENCE ANALYSIS; TEMPERATURE SENSITIVITY; WILSON DISEASE; YEAST; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; MENKES SYNDROME; MISSENSE MUTATION; PROTEIN EXPRESSION; PROTEIN STRUCTURE; SACCHAROMYCES CEREVISIAE; SITE DIRECTED MUTAGENESIS; BINDING SITE; BIOLOGICAL MODEL; CHEMICAL STRUCTURE; CHEMISTRY; COMPARATIVE STUDY; ENZYMOLOGY; GENETICS; ION TRANSPORT; METABOLISM; PROTEIN TERTIARY STRUCTURE;

MAMMALIA;

ADENOSINE TRIPHOSPHATASES; ADENOSINE TRIPHOSPHATE; BINDING SITES; CATION TRANSPORT PROTEINS; CERULOPLASMIN; COPPER; GENETIC COMPLEMENTATION TEST; HEPATOLENTICULAR DEGENERATION; HUMANS; ION TRANSPORT; MODELS, BIOLOGICAL; MODELS, MOLECULAR; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN STRUCTURE, TERTIARY; RECOMBINANT PROTEINS; SACCHAROMYCES CEREVISIAE; SACCHAROMYCES CEREVISIAE PROTEINS; VARIATION (GENETICS);

EID: 42049112584     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20674     Document Type: Article

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