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Titolo:
ABETALIPOPROTEINEMIA IS CAUSED BY DEFECTS OF THE GENE ENCODING THE 97KDA SUBUNIT OF A MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN
Autore:
SHOULDERS CC; BRETT DJ; BAYLISS JD; NARCISI TME; JARMUZ A; GRANTHAM TT; LEONI PRD; BHATTACHARYA S; PEASE RJ; CULLEN PM; LEVI S; BYFIELD PGH; PURKISS P; SCOTT J;
Indirizzi:
HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC MOLEC MED GRP LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,MRC MOLEC MED GRP LONDON W12 0NN ENGLAND HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,DEPT MED,GASTROENTEROL UNIT LONDON W12 0NN ENGLAND MRC,CLIN RES CTR,HAEMOSTASIS RES GRP HARROW HA1 3UJ MIDDX ENGLAND
Titolo Testata:
Human molecular genetics
fascicolo: 12, volume: 2, anno: 1993,
pagine: 2109 - 2116
SICI:
0964-6906(1993)2:12<2109:AICBDO>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
APOLIPOPROTEIN-B GENE; ESTER TRANSFER PROTEIN; RNA SPLICE JUNCTIONS; HEP G2 CELLS; ENDOPLASMIC-RETICULUM; DISULFIDE-ISOMERASE; MESSENGER-RNA; PRECEDING EXON; BOVINE LIVER; SECRETION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
51
Recensione:
Indirizzi per estratti:
Citazione:
C.C. Shoulders et al., "ABETALIPOPROTEINEMIA IS CAUSED BY DEFECTS OF THE GENE ENCODING THE 97KDA SUBUNIT OF A MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN", Human molecular genetics, 2(12), 1993, pp. 2109-2116

Abstract

Abetalipoproteinemia is an inherited disorder of lipoprotein metabolism. Affected individuals produce virtually no circulating apolipoprotein B-containing lipoproteins (chylomicrons, very low density lipoprotein, low density lipoprotein and lipoprotein (a)). Malabsorption of theantioxidant vitamin E occurs, leading to spinocerebellar and retinal degeneration. Biochemical and genetic studies show that abetalipoproteinemia is not a defect of lipid biosynthesis or of the apolipoprotein B gene. Instead a microsomal triglyceride transfer protein, which exists as a complex with protein disulphide isomerase in the endoplasmic reticulum, has been implicated. We have cloned and sequenced the human cDNA encoding microsomal triglyceride transfer protein. The predicted amino acid sequence shows extensive homology to vitellogenin, the precursor of the lipovitellin complex, which has been shown by X-ray crystallography to contain a large lipid storage cavity. Microsomal triglyceride transfer protein is expressed in ovary, testis and kidney, in addition to liver and small intestine. A homozygous mutation that disrupts splicing has been identified in affected siblings with classical abetalipoproteinemia. These results elucidate a key process in the packaging of apolipoprotein B with lipid, and should increase our understanding of the processes regulating the production of atherogenic lipoproteins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/09/20 alle ore 19:03:18