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Titolo:
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangierdisease
Autore:
Bodzioch, M; Orso, E; Klucken, T; Langmann, T; Bottcher, L; Diederich, W; Drobnik, W; Barlage, S; Buchler, C; Porsch-Ozcurumez, M; Kaminski, WE; Hahmann, HW; Oette, K; Rothe, G; Aslanidis, C; Lackner, KJ; Schmitz, G;
Indirizzi:
Univ Regensburg, Inst Clin Chem & Lab Med, D-93042 Regensburg, Germany Univ Regensburg Regensburg Germany D-93042 , D-93042 Regensburg, Germany Klin Schwabenland, D-88315 Isny Neutrauchbturg, Germany Klin SchwabenlandIsny Neutrauchbturg Germany D-88315 auchbturg, Germany Univ Cologne, Fac Med, D-50924 Cologne, Germany Univ Cologne Cologne Germany D-50924 , Fac Med, D-50924 Cologne, Germany
Titolo Testata:
NATURE GENETICS
fascicolo: 4, volume: 22, anno: 1999,
pagine: 347 - 351
SICI:
1061-4036(199908)22:4<347:TGEACT>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
APOLIPOPROTEIN-A-I; CELLULAR CHOLESTEROL; ABC TRANSPORTERS; PHOSPHOLIPIDS; FIBROBLASTS; RECEPTOR; EFFLUX;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
29
Recensione:
Indirizzi per estratti:
Indirizzo: Schmitz, G Univ Regensburg, Inst Clin Chem & Lab Med, Franz Josef Str Allee 11, D-93042 Regensburg, Germany Univ Regensburg Franz Josef Str Allee 11 Regensburg Germany D-93042
Citazione:
M. Bodzioch et al., "The gene encoding ATP-binding cassette transporter 1 is mutated in Tangierdisease", NAT GENET, 22(4), 1999, pp. 347-351

Abstract

Tangier disease (TD) is an autosomal recessive disorder of lipid metabolism(1). It is characterized by absence of plasma high-density lipoprotein (HDL) and deposition of cholesteryl esters in the reticulo-endothelial system with splenomegaly and enlargement of tonsils and lymph nodes(. )(2) Althoughlow HDL cholesterol is associated with an increased risk for coronary artery disease, this condition is not consistently found in TD pedigrees. Metabolic studies in TD patients have revealed a rapid catabolism of HDL and itsprecursors(2). In contrast to normal mononuclear phagocytes (MNP), MNP from TD individuals degrade internalized HDL in unusual lysosomes, indicating a defect in cellular lipid metabolism(3,4). HDL-mediated cholesterol effluxand intracellular lipid trafficking and turnover are abnormal in TD fibroblasts(5-7), which have a reduced in vitro growth rates. The TD locus has been mapped to chromosome 9q31 (ref. 9). Here we present evidence that TD is caused by mutations in ABC1, encoding a member of the ATP-binding cassette (ABC) transporter family, located on chromosome 9q22-31 (ref. 10), We have analysed five kindreds with TD and identified seven different mutations, including three that are expected to impair the function of the gene product. The identification of ABC1 as the TD locus has implications for the understanding of cellular HDL metabolism and reverse cholesterol transport, and its association with premature cardiovascular disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/11/20 alle ore 18:35:13