The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions

Journal of Biological Chemistry

Volumn 288, Issue 19, 2013, Pages 13676-13694

  Tuz, Karina ^a   Hsiao, Yi Chun ^a,c   Juárez, Oscar ^c   Shi, Bingxing ^c   Harmon, Erin Y ^b   Phelps, Ian G ^d   Lennartz, Michelle R ^b   Glass, Ian A ^d   Doherty, Dan ^d,e   Ferland, Russell J ^a,c  

^a ALBANY MEDICAL COLLEGE   (United States)

^b Center for Cell Biology and Cancer Research   (United States)

^c RENSSELAER POLYTECHNIC INSTITUTE   (United States)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN INTERACTION; PROTEIN LOCALIZATION; PROTEIN-PROTEIN INTERACTIONS;

BIOCHEMISTRY; BIOLOGY;

PROTEINS;

ABELSON HELPER INTEGRATION SITE 1 PROTEIN; BINDING PROTEIN; CYTOPLASM PROTEIN; HUNTINGTIN ASSOCIATED PROTEIN 1; NEPHROCYSTIN 1; UNCLASSIFIED DRUG;

ABELSON HELPER INTEGRATION SITE 1 GENE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL JUNCTION; CELL POLARITY; CELLULAR DISTRIBUTION; CONTROLLED STUDY; EMBRYO; EUKARYOTIC FLAGELLUM; HUMAN; HUMAN CELL; JOUBERT SYNDROME; KINETOSOME; MISSENSE MUTATION; MOUSE; NERVE CELL; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; SIGNAL TRANSDUCTION; SKIN FIBROBLAST;

AHI1; CILIA; HAP1; JOUBERT SYNDROME; NEURODEVELOPMENT; NEUROLOGICAL DISEASES; NEURONS; PROTEIN COMPLEXES;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; ANIMALS; BRAIN; CELL POLARITY; CELLS, CULTURED; CEREBELLAR DISEASES; CILIA; CONSERVED SEQUENCE; EYE ABNORMALITIES; FIBROBLASTS; HUMANS; INTERCELLULAR JUNCTIONS; KIDNEY DISEASES, CYSTIC; MEMBRANE PROTEINS; MICE; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; PROTEIN BINDING; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN INTERACTION MAPS; PROTEIN STABILITY; PROTEIN TRANSPORT; RETINA; SIGNAL TRANSDUCTION; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 84877694426     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.420786     Document Type: Article

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