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Titolo:
Analysis of the lysosomal storage disease Chediak-Higashi syndrome
Autore:
Ward, DM; Griffiths, GM; Stinchcombe, JC; Kaplan, J;
Indirizzi:
Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT 84132 USA Univ Utah Salt Lake City UT USA 84132 athol, Salt Lake City, UT 84132 USA Univ Oxford, Sir William Dunn Sch Pathol, Oxford OX1 3RE, England Univ Oxford Oxford England OX1 3RE n Sch Pathol, Oxford OX1 3RE, England
Titolo Testata:
TRAFFIC
fascicolo: 11, volume: 1, anno: 2000,
pagine: 816 - 822
SICI:
1398-9219(200011)1:11<816:AOTLSD>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
HERMANSKY-PUDLAK-SYNDROME; PROTEIN-KINASE-C; SYNDROME BEIGE MOUSE; RAPID DOWN-REGULATION; KILLER CELL-ACTIVITY; SYNDROME GENE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; LYMPHOCYTE FUNCTION; GRISCELLI-DISEASE; PLATELET-FUNCTION;
Keywords:
antigen presentation; beige; Chediak-Higashi; cytolytic granules; Griscelli; Hermansky-Pudlak lysosome; melanosome; membrane trafficking; WD-40 repeat protein;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
87
Recensione:
Indirizzi per estratti:
Indirizzo: Kaplan, J Univ Utah, Sch Med, Dept Pathol, Salt Lake City, UT 84132 USA Univ Utah Salt Lake City UT USA 84132 t Lake City, UT 84132 USA
Citazione:
D.M. Ward et al., "Analysis of the lysosomal storage disease Chediak-Higashi syndrome", TRAFFIC, 1(11), 2000, pp. 816-822

Abstract

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in ail species identified, permitting a positional cloning approach using the mouse model beige to identify the responsible gene. The CHS gene was cloned and mutations identified in affected species. This review discusses the clinical features of CHS contrasting features seen in similar syndromes. The possible functions of the protein encoded by the CHS/beige gene are discussed, along with the alterations in cellular physiology seen in mutant cells.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 15/07/20 alle ore 06:59:40