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Titolo:
Hermansky-Pudlak syndrome and related disorders of organelle formation
Autore:
Huizing, M; Anikster, Y; Gahl, WA;
Indirizzi:
NICHHD, Heritable Disorders Branch, Sect Human Biochem Genet, NIH, Bethesda, MD 20892 USA NICHHD Bethesda MD USA 20892 n Biochem Genet, NIH, Bethesda, MD 20892 USA
Titolo Testata:
TRAFFIC
fascicolo: 11, volume: 1, anno: 2000,
pagine: 823 - 835
SICI:
1398-9219(200011)1:11<823:HSARDO>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
CHEDIAK-HIGASHI-SYNDROME; AP-3 ADAPTER COMPLEX; PIGMENT GRANULE BIOGENESIS; GRAY PLATELET SYNDROME; VON-WILLEBRAND-FACTOR; WISTAR FURTH RAT; PALE EAR EP; PULMONARY FIBROSIS; OCULOCUTANEOUS ALBINISM; PROTEIN COMPLEX;
Keywords:
Albinism; Chediak-Higashi syndrome; granule; Griscelli syndrome; Hermansky-Pudlak syndrome; metabolic defect; storage pool deficiency; transport; vesicle;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
117
Recensione:
Indirizzi per estratti:
Indirizzo: Gahl, WA NICHHD, Heritable Disorders Branch, Sect Human Biochem Genet, NIH, Bethesda, MD 20892 USA NICHHD Bethesda MD USA 20892 Genet, NIH, Bethesda, MD 20892 USA
Citazione:
M. Huizing et al., "Hermansky-Pudlak syndrome and related disorders of organelle formation", TRAFFIC, 1(11), 2000, pp. 823-835

Abstract

Hermansky-Pudlak syndrome (HPS) consists of a group of genetically heterogeneous disorders which share the clinical findings of oculocutaneous albinism, a platelet storage pool deficiency, and some degree of ceroid lipofuscinosis. Related diseases share some of these findings and may exhibit other symptoms and signs but the underlying defect in the entire group of disorders involves defective intracellular vesicle formation, transport or fusion. Two HPS-causing genes, HPS1 and ADTB3A, have been isolated but the function of only the latter has been determined. ADTB3A codes for the beta 3A subunit of adaptor complex-3, responsible for vesicle formation from the trans-Golgi network (TGN). The many HPS patients who do not have HPS1 or ADTB3A mutations have their disease because of mutations in other genes. Candidatesfor these HPS-causing genes include those responsible for mouse models of HPS or for the 'granule' group of eye color genes in Drosophila. Each gene responsible for a subset of HPS or a related disorder codes for a protein which almost certainly plays a pivotal role in vesicular trafficking, inextricably linking clinical and cell biological interests in this group of diseases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 13:04:28