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A Novel Abetalipoproteinemia Genotype

Published:1996-11 Issue:47 Volume:271 Page:29945-29952
ISSN:0021-9258
Container-title:Journal of Biological Chemistry
language:en
Short-container-title:Journal of Biological Chemistry

Author:

Rehberg Edward F.,Samson-Bouma Marie-Elisabeth,Kienzle Bernadette,Blinderman Laura,Jamil Haris,Wetterau John R.,Aggerbeck Lawrence P.,Gordon David A.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Biochemistry

Reference21 articles.

1. Protein disulfide isomerase is a component of the microsomal triglyceride transfer protein complex.

2. Sequence of protein disulphide isomerase and implications of its relationship to thioredoxin

3. Localization of intracellular triacylglycerol and cholesteryl ester transfer activity in rat tissues

4. Absence of Microsomal Triglyceride Transfer Protein in Individuals with Abetalipoproteinemia

5. Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

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2. Guidance for the diagnosis and treatment of hypolipidemia disorders;Journal of Clinical Lipidology;2022-11

3. Impact of IL10, MTP, SOD2, and APOE Gene Polymorphisms on the Severity of Liver Fibrosis Induced by HCV Genotype 4;Viruses;2021-04-20

4. A novel p.Gly417Valfs*12 mutation in the MTTP gene causing abetalipoproteinemia: Presentation of the first patient in Mexico and analysis of the previously reported cases;Journal of Clinical Laboratory Analysis;2020-11-30

5. A point mutation decouples the lipid transfer activities of microsomal triglyceride transfer protein;PLOS Genetics;2020-08-06

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