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Titolo:
Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: Consequences of disease-causing mutations and implications for melanosome biogenesis
Autore:
Shen, B; Rosenberg, B; Orlow, SJ;
Indirizzi:
NYU, Sch Med, Ronald O Perelman Dept Dermatol, New York, NY 10016 USA NYUNew York NY USA 10016 Perelman Dept Dermatol, New York, NY 10016 USA NYU, Sch Med, Dept Cell Biol, New York, NY 10016 USA NYU New York NY USA 10016 Sch Med, Dept Cell Biol, New York, NY 10016 USA
Titolo Testata:
TRAFFIC
fascicolo: 3, volume: 2, anno: 2001,
pagine: 202 - 211
SICI:
1398-9219(200103)2:3<202:IDALEE>2.0.ZU;2-0
Fonte:
ISI
Lingua:
ENG
Soggetto:
LYSOSOMAL DELIVERY; OA1 GENE; MULTIVESICULAR ENDOSOMES; INVARIANT CHAIN; TRANSPORT; PROTEINS; DROSOPHILA; TRAFFICKING; EXPRESSION; SEQUENCE;
Keywords:
Lysobisphosphatidic acid; lysosome; mannose-6-phosphate receptor; multivesicular body;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Orlow, SJ NYU, Sch Med, Ronald O Perelman Dept Dermatol, New York, NY 10016 USA NYU New York NY USA 10016 Dept Dermatol, New York, NY 10016 USA
Citazione:
B. Shen et al., "Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: Consequences of disease-causing mutations and implications for melanosome biogenesis", TRAFFIC, 2(3), 2001, pp. 202-211

Abstract

To investigate the function of ocular albinism type 1 (OA1), the gene responsible for X-linked ocular albinism, we employed a construct containing murine Oa1 fused to green fluorescent protein (GFP) in a heterologous COS cell expression system. The cellular distribution of wildtype (WT) Oa1 proteinand Oa1 proteins reflecting mutations causing X-linked ocular albinism were examined. Comparison with different organelle markers revealed that Oa1-GFP localized to the late endolysosomal compartments. Some Oa1 mutant proteins failed to exit the endoplasmic reticulum (ER) (Class I mutants), while other mutants partially (Class II mutants) or fully (Class III mutants) exited the ER and trafficked to endolysosomal compartments. We observed that expression of WT Oa1-GFP in COS cells caused an apparent enlargement of late endosomes and a redistribution of the mannose-6-phosphate receptor (M6PR). None of the mutants displayed the full range of effects on the redistribution of M6PR exhibited by WT Oa1. The effects of Oa1 on late endosome structure and content are thus likely to reflect an important biological property of Oa1. We propose that OA1 is involved in reorganizing the endolysosomal compartment as a necessary step in ocular melanosome biogenesis.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 14:38:25