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Titolo:
Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome
Autore:
Swank, RT; Novak, EK; McGarry, MP; Zhang, YK; Li, W; Zhang, Q; Feng, LJ;
Indirizzi:
Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Buffalo, NY 14263 USA Roswell Pk Canc Inst Buffalo NY USA 14263 lar Biol, Buffalo, NY 14263 USA Roswell Pk Canc Inst, Dept Lab Anim Resources, Buffalo, NY 14263 USA Roswell Pk Canc Inst Buffalo NY USA 14263 esources, Buffalo, NY 14263 USA
Titolo Testata:
PIGMENT CELL RESEARCH
, volume: 13, anno: 2000, supplemento:, 8
pagine: 59 - 67
SICI:
0893-5785(2000)13:<59:AVTIMM>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
STORAGE POOL DEFICIENCY; MULTI-ORGANELLAR DISORDERS; PALE EAR EP; PROTEIN COMPLEX; AP-3 ADAPTER; LYSOSOMAL DELIVERY; VESICLE FORMATION; MOCHA MOUSE; TRANSPORT; PLATELETS;
Keywords:
melanosomes; lysosomes; platelet-dense granules; endosomes;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Swank, RT Roswell Pk Canc Inst, Dept Mol & Cellular Biol, Elm & Carlton St, Buffalo,NY 14263 USA Roswell Pk Canc Inst Elm & Carlton St Buffalo NY USA14263 3 USA
Citazione:
R.T. Swank et al., "Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome", PIGM CELL R, 13, 2000, pp. 59-67

Abstract

Hermansky-Pudlak Syndrome (HPS) is a group of related multigenic recessively inherited disorders which causes abnormalities in the biosynthesis and/or function of three related organelles; melanosomes, platelet-dense granules and lysosomes, These lead, in turn, to hypopigmentation, prolonged bleeding and ceroid deposition. Positional cloning strategies have identified five mouse HPS genes. Two orthologous human diseases (HPS1 and HPS2) have likewise been identified. At least four of the five mouse genes encode proteinsinvolved in the regulation of intracellular vesicle trafficking, The pearl(HPS2) and mocha genes encode the beta3A and delta subunits, respectively,of the AP-3 adaptor complex, which captures organelle membrane proteins atthe trans-Golgi apparatus. The protein products of the pallid and gunmetalgenes are also important components of the vesicular trafficking machinery. The former interacts with a t-SNARE, syntaxin13, and the latter is the alpha subunit of Rab geranylgeranyltransferase, which renders Rab proteins sufficiently lipophilic to function at their target membranes. The pale ear (HPS1) gene encodes a ubiquitously expressed protein of unknown function. Recent physiological studies have shown that mouse HPS mutants, Like their human HPS counterparts, have variably reduced lifespans and may have lung abnormalities.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 14:06:04