The functional effect of pathogenic mutations in Rab escort protein 1

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 665, Issue 1-2, 2009, Pages 44-50

  Sergeev, Y V ^a   Smaoui, N ^a   Sui, R ^a   Stiles, D ^a   Gordiyenko, N ^a   Strunnikova, N ^a   MacDonald, I M ^a  

^a NATIONAL EYE INSTITUTE   (United States)

Author keywords

Choroideremia; Missense mutation; Protein destabilization; Rab escort protein 1; Structural mechanism

Indexed keywords

HELICASE; PROLINE; RAB PROTEIN;

ADULT; AGED; ARTICLE; CHOROIDEREMIA; COMPUTER MODEL; CONTROLLED STUDY; DELETION MUTANT; FIBROBLAST; GENE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; MONONUCLEAR CELL; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; PROTEIN TERTIARY STRUCTURE; RAT; SEQUENCE HOMOLOGY; STRUCTURE ANALYSIS; WESTERN BLOTTING;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELLS, CULTURED; CHOROID; CHOROIDEREMIA; CODON, NONSENSE; DNA PRIMERS; GENE EXPRESSION; HUMANS; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PHENOTYPE; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; RATS; RETINA; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID;

RATTUS;

EID: 67349162970     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2009.02.015     Document Type: Article

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