Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B

Proceedings of the National Academy of Sciences of the United States of America

Volumn 111, Issue 14, 2014, Pages

  Braiterman, Lelita T ^a   Murthy, Amrutha ^a   Jayakanthan, Samuel ^a   Nyasae, Lydia ^a   Tzeng, Eric ^a   Gromadzka, Grazyna ^b   Woolf, Thomas B ^a   Lutsenko, Svetlana ^a   Hubbard, Ann L ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Ceruloplasmin; Interdomain interactions; Molecular dynamics

Indexed keywords

WILSON DISEASE PROTEIN;

ALLELE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ARTICLE; GENE MUTATION; GENOTYPE; HUMAN; LIVER CELL; METAL BINDING; MISSENSE MUTATION; MOLECULAR DYNAMICS; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN TRANSPORT; SECRETORY PATHWAY; STRUCTURAL BIOINFORMATICS; WILSON DISEASE;

CERULOPLASMIN; INTERDOMAIN INTERACTIONS; MOLECULAR DYNAMICS;

ADENOSINE TRIPHOSPHATASES; AMINO ACID SEQUENCE; ANIMALS; CATION TRANSPORT PROTEINS; CELL MEMBRANE; COPPER; GOLGI APPARATUS; HEPATOLENTICULAR DEGENERATION; HUMANS; LIVER; MODELS, MOLECULAR; MODELS, THEORETICAL; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84898053250     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1314161111     Document Type: Article

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