Novel mutations in the microsomal triglyceride transfer protein gene causing abetalipoproteinemia

Journal of Lipid Research

Volumn 41, Issue 8, 2000, Pages 1199-1204

  Ohashi, Ken ^a   Ishibashi, Shun ^a   Osuga, Jun Ichi ^a   Tozawa, Ryu Ichi ^a   Harada, Kenji ^a   Yahagi, Naoya ^a   Shionoiri, Futoshi ^a   Iizuka, Yoko ^a   Tamura, Yoshiaki ^a   Nagai, Ryozo ^a   Roger Illingworth, D ^b   Gotoda, Takanari ^a   Yamada, Nobuhiro ^c  

^a UNIVERSITY OF TOKYO   (Japan)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^c UNIVERSITY OF TSUKUBA   (Japan)

Author keywords

Abetalipoproteinemia; Apolipoprotein B; Cholesterol; Lipoproteins; Microsomal triglyceride transfer protein; Triglycerides

Indexed keywords

ALPHA TOCOPHEROL; APOLIPOPROTEIN B; CHOLESTEROL; COMPLEMENTARY DNA; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID TRANSFER PROTEIN; PROTEIN DISULFIDE ISOMERASE; TRIACYLGLYCEROL;

ABETALIPOPROTEINEMIA; ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; ENZYME ACTIVITY; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ABETALIPOPROTEINEMIA; ADENINE; ADOLESCENT; ADULT; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; COS CELLS; DNA, COMPLEMENTARY; FEMALE; FRAMESHIFT MUTATION; GENE EXPRESSION; HETEROZYGOTE; HUMANS; INFANT; MALE; MUTATION; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS, DNA; TRANSFECTION;

EID: 0033847378     PISSN: 00222275     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

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4. Absence of microsomal triglyceride transfer protein in individuals with abetalipoproteinemia
5. Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinemia
6. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein
7. Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex
8. Apolipoprotein B is both integrated into and translocated across the endoplasmic reticulum membrane
9. The assembly and secretion of apo B-100 containing lipoproteins in HepG2 cells
10. Microsomal triglyceride transfer protein, the abetalipoproteinemia gene product, mediates the secretion of apolipoprotein B-containing lipoproteins from heterologous cells
11. Secretion of apolipoprotein B-containing lipoproteins from HeLa cells is dependent on expression of the microsomal triglyceride transfer protein and is regulated by lipid availability
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13. The structure of vitellogenin provides a molecular model for the assembly and secretion of atherogenic lipoproteins
14. A novel abetalipoprotein genotype. Identification of a missense mutation in the 97-kDa subunit of the microsomal triglyceride transfer protein that prevents complex formation with protein disulfide isomerase
15. A common binding site on the microsomal triglyceride transfer protein for apolipoprotein B and protein disulfide isomerase
16. Plasma cholesteryl ester transfer protein
17. A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia
18. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene
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20. A general method of in vitro preparation and mutagenesis of DNA fragments: Study of protein and DNA interactions
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