Characterization of the molecular defects in RAB27A, caused by RAB27A missense mutations found in patients with Griscelli syndrome

Journal of Biological Chemistry

Volumn 278, Issue 13, 2003, Pages 11386-11392

  Bahadoran, Philippe ^c   Busca, Roser ^c   Chiaverini, Christine ^c   Westbroek, Wendy ^a   Lambert, Jo ^a   Bille, Karine ^c   Valony, Gaëlle ^c   Fukuda, Mitsunori ^b   Naeyaert, Jean Marie ^a   Ortonne, Jean Paul ^c   Ballotti, Robert ^c  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b INST OF PHYS AND CHEMICAL RESEARCH   (Japan)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELLS; PATIENT TREATMENT;

MUTANTS;

BIOCHEMISTRY;

GENE PRODUCT; MELANOPHILIN; MYOSIN V; MYOSIN VA; RAB PROTEIN; RAB27A PROTEIN; UNCLASSIFIED DRUG; CARRIER PROTEIN; GUANOSINE TRIPHOSPHATE; MLPH PROTEIN, HUMAN; MLPH PROTEIN, MOUSE; MYO5A PROTEIN, HUMAN; MYO5A PROTEIN, MOUSE; MYOSIN HEAVY CHAIN; RAB27A PROTEIN, HUMAN; RAB27A PROTEIN, MOUSE; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ANIMAL CELL; ARTICLE; DENDRITE; GENE FUNCTION; GRISCELLI SYNDROME; IMMUNE DEFICIENCY; MELANOCYTE; MELANOSOME; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PIGMENT DISORDER; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; ANIMAL; CELL CULTURE; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; HUMAN; METABOLISM; MOUSE; NEUROLOGIC DISEASE; SYNDROME; WESTERN BLOTTING;

ANIMALIA;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; BLOTTING, WESTERN; CARRIER PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; GUANOSINE TRIPHOSPHATE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICE; MUTATION, MISSENSE; MYOSIN HEAVY CHAINS; MYOSIN TYPE V; NERVOUS SYSTEM DISEASES; PROTEIN BINDING; RAB GTP-BINDING PROTEINS; SYNDROME; TUMOR CELLS, CULTURED;

EID: 0038075377     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M211996200     Document Type: Article

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