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Titolo:
INDEPENDENT MUTATIONS AT CODON-3500 OF THE APOLIPOPROTEIN-B GENE ARE ASSOCIATED WITH HYPERLIPIDEMIA
Autore:
GAFFNEY D; REID JM; CAMERON IM; VASS K; CASLAKE MJ; SHEPHERD J; PACKARD CJ;
Indirizzi:
GLASGOW ROYAL INFIRM,INST PATHOL BIOCHEM,4TH FLOOR,QUEEN ELIZABETH BLDG,ALEXANDRA PARADE GLASGOW G31 2ER LANARK SCOTLAND BEATSON INST CANC RES GLASGOW G61 1BD LANARK SCOTLAND
Titolo Testata:
Arteriosclerosis, thrombosis, and vascular biology
fascicolo: 8, volume: 15, anno: 1995,
pagine: 1025 - 1029
SICI:
1079-5642(1995)15:8<1025:IMACOT>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
FAMILIAL DEFECTIVE APOLIPOPROTEIN-B-100; LOW-DENSITY-LIPOPROTEIN; RECEPTOR-BINDING; LDL RECEPTOR; DNA; HAPLOTYPE; GROWTH;
Keywords:
APOLIPOPROTEIN B; LDL CHOLESTEROL GENETICS; BIOLOGICAL ASSAY; BASE SEQUENCE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
23
Recensione:
Indirizzi per estratti:
Citazione:
D. Gaffney et al., "INDEPENDENT MUTATIONS AT CODON-3500 OF THE APOLIPOPROTEIN-B GENE ARE ASSOCIATED WITH HYPERLIPIDEMIA", Arteriosclerosis, thrombosis, and vascular biology, 15(8), 1995, pp. 1025-1029

Abstract

The apoB arginine-to-glutamine change at codon 3500 has become established as a cause of failure of binding of the LDL particle to its receptor and the consequent hypercholesterolemia of familial defective apoB 100. A search for further similar mutations was undertaken by systematic screening of a candidate region of the apoB gene from individualswith hypercholesterolemia. Polymerase chain reaction and denaturing gradient gel electrophoresis were used. We describe two families in which a different mutation in the codon 3500 causes an arginine-to-tryptophan substitution. Most adults in these families who have this mutation have hypercholesterolemia. LDL derived from all who have inherited the mutation is dysfunctional in that it allows only poor growth of an LDL cholesterol- dependent cell line. We conclude that this arginine 3500 is essential to the function of apoB and that its loss and replacement by glutamine or tryptophan is responsible for the hypercholesterolemia of familial defective apoB 100.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 12:47:25