Oculocutaneous albinism types 1 and 3 are ER retention diseases: Mutation of tyrosinase or Tyrp1 can affect the processing of both mutant and wild-type proteins

FASEB Journal

Volumn 15, Issue 12, 2001, Pages 2149-2161

  Toyofuku, Kazutomo ^a   Wada, Ikuo ^a,b   Valencia, Julio C ^c   Kushimoto, Tsuneto ^a   Ferrans, Victor J ^c   Hearing, Vincent J ^a,d  

^a NATIONAL CANCER INSTITUTE   (United States)

^b SAPPORO MEDICAL UNIVERSITY   (Japan)

^c NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^d NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

Albinism; Chaperones; Melanogenesis; Pigmentation

Indexed keywords

CALNEXIN; MELANIN; MONOPHENOL MONOOXYGENASE;

ANIMAL CELL; ARTICLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME STABILITY; GENE EXPRESSION REGULATION; GENE MUTATION; INTRACELLULAR TRANSPORT; MELANOCYTE; MELANOGENESIS; MELANOSOME; MOUSE; NONHUMAN; OCULOCUTANEOUS ALBINISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROCESSING; PROTEIN PROTEIN INTERACTION;

ALBINISM, OCULOCUTANEOUS; ANIMALS; CALCIUM-BINDING PROTEINS; CALNEXIN; CARRIER PROTEINS; ENDOPLASMIC RETICULUM; HEAT-SHOCK PROTEINS; HEXOSAMINIDASES; INTRAMOLECULAR OXIDOREDUCTASES; MACROMOLECULAR SUBSTANCES; MELANINS; MELANOCYTES; MEMBRANE GLYCOPROTEINS; MICE; MOLECULAR CHAPERONES; MONOPHENOL MONOOXYGENASE; MUTATION; OXIDOREDUCTASES; TUMOR CELLS, CULTURED;

ANIMALIA; OXALIS TUBEROSA;

EID: 0034806114     PISSN: 08926638     EISSN: None     Source Type: Journal    
DOI: 10.1096/fj.01-0216com     Document Type: Article

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