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Titolo:
Mutations in ABC1 in Tangier disease and familial high-density lipoproteindeficiency
Autore:
Brooks-Wilson, A; Marcil, M; Clee, SM; Zhang, LH; Roomp, K; van Dam, M; Yu, L; Brewer, C; Collins, JA; Molhuizen, HOF; Loubser, O; Ouelette, BFF; Fichter, K; Ashbourne-Excoffon, KJD; Sensen, CW; Scherer, S; Mott, S; Denis, M; Martindale, D; Frohlich, J; Morgan, K; Koop, B; Pimstone, S; Kastelein, JJP; Genest, J; Hayden, MR;
Indirizzi:
Univ British Columbia, Womens & Childrens Hosp, Ctr Mol Med & Therapeut, Vancouver, BC V5Z 4H4, Canada Univ British Columbia Vancouver BC Canada V5Z4H4 ver, BC V5Z 4H4, Canada Xenon Biores Inc, NRC Innovat Ctr, Vancouver, BC V6T 1W5, Canada Xenon Biores Inc Vancouver BC Canada V6T 1W5 ancouver, BC V6T 1W5, Canada Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands Acad Med Ctr Amsterdam Netherlands NL-1105 AZ AZ Amsterdam, Netherlands Clin Res Inst Montreal, Cardiovasc Genet Lab, Montreal, PQ H2W 1R7, CanadaClin Res Inst Montreal Montreal PQ Canada H2W 1R7 eal, PQ H2W 1R7, Canada McGill Univ, Dept Med, Montreal, PQ H3G 1A4, Canada McGill Univ Montreal PQ Canada H3G 1A4 Med, Montreal, PQ H3G 1A4, Canada McGill Univ, Dept Human Genet, Montreal, PQ H3G 1A4, Canada McGill Univ Montreal PQ Canada H3G 1A4 enet, Montreal, PQ H3G 1A4, Canada Natl Res Council Canada, Inst Marine Biosci, Halifax, NS B3H 3Z1, Canada Natl Res Council Canada Halifax NS Canada B3H 3Z1 fax, NS B3H 3Z1, Canada Univ Toronto, Hosp Sick Children, Toronto, ON M5G 1X8, Canada Univ Toronto Toronto ON Canada M5G 1X8 ldren, Toronto, ON M5G 1X8, Canada Univ Victoria, Ctr Environm Hlth, Dept Biol, Victoria, BC V8W 3N5, Canada Univ Victoria Victoria BC Canada V8W 3N5 ol, Victoria, BC V8W 3N5, Canada Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6T 1Z1, Canada Univ British Columbia Vancouver BC Canada V6T 1Z1 ver, BC V6T 1Z1, Canada
Titolo Testata:
NATURE GENETICS
fascicolo: 4, volume: 22, anno: 1999,
pagine: 336 - 345
SICI:
1061-4036(199908)22:4<336:MIAITD>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
CORONARY HEART-DISEASE; MULTILOCUS LINKAGE ANALYSIS; HDL CHOLESTEROL LEVELS; GENE ABCR; PHOSPHOLIPASE-C; ARTERY DISEASE; FIBROBLASTS; EFFLUX; COMPUTATIONS; TRANSPORTERS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Hayden, MR Univ British Columbia, Womens & Childrens Hosp, Ctr Mol Med & Therapeut, 950 W 28th Ave, Vancouver, BC V5Z 4H4, Canada Univ British Columbia 950 W 28th Ave Vancouver BC Canada V5Z 4H4
Citazione:
A. Brooks-Wilson et al., "Mutations in ABC1 in Tangier disease and familial high-density lipoproteindeficiency", NAT GENET, 22(4), 1999, pp. 336-345

Abstract

Genes have a major role in the control of high-density lipoprotein (HDL) cholesterol (HDL-C) levels. Here we have identified two Tangier disease (TD)families, confirmed 9q31 linkage and refined the disease locus to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1). Familiar HDL deficiency (FHA) is a more frequent cause of low HDL levels. On the basis of independent linkage and meiotic recombinants, we localized the FHA locus to the same genomic region as the TD locus, Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. This indicates that the protein encoded by ABC1 is a key gatekeeper influencing intracellular cholesterol transport, hence we have named it cholesterol efflux regulatory protein (CERP).

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/04/20 alle ore 21:46:11