Defective intracellular transport and processing of OA1 is a major caise of ocular albinism type 1

Human Molecular Genetics

Volumn 9, Issue 20, 2000, Pages 3011-3018

  D'Addio, Marilena ^a   Pizzigoni, Alessandro ^a,f   Bassi, Maria Teresa ^a   Baschirotto, Cinzia ^a   Valetti, Caterina ^b   Incerti, Barbara ^a   Clementi, Maurizio ^c   De Luca, Michele ^d   Ballabio, Andrea ^a,e   Schiaffino, Maria Vittoria ^a,f  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF GENOA   (Italy)

^c UNIVERSITY OF PADOVA   (Italy)

^d LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^e VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^f SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; G PROTEIN COUPLED RECEPTOR; GUANINE NUCLEOTIDE BINDING PROTEIN; MUTANT PROTEIN; OA1 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; CYTOSOL; ENDOPLASMIC RETICULUM; GENE CLUSTER; HUMAN; HUMAN CELL; INTRACELLULAR TRANSPORT; MISSENSE MUTATION; NONHUMAN; OCULAR ALBINISM; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN FOLDING; PROTEIN GLYCOSYLATION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN STRUCTURE; PROTEIN TARGETING; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; STRUCTURE ACTIVITY RELATION; X CHROMOSOME LINKED DISORDER;

ALBINISM, OCULAR; AMINO ACID SEQUENCE; ANIMALS; BIOLOGICAL TRANSPORT; BLOTTING, WESTERN; CELLS, CULTURED; COS CELLS; EYE PROTEINS; FLUORESCENT ANTIBODY TECHNIQUE; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; MELANOCYTES; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; PROTEIN CONFORMATION;

EID: 0034642294     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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