Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum-Reference-Cited by-同舟云学术

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum

Published:2014-01-01 Issue:1 Volume:4 Page:321-327
ISSN:2211-5463
Container-title:FEBS Open Bio
language:en
Short-container-title:

Author:

Strøm Thea Bismo,Tveten Kristian,Laerdahl Jon K.,Leren Trond P.

Publisher

Wiley

Subject

General Biochemistry, Genetics and Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1016/j.fob.2014.03.007/fullpdf

Reference33 articles.

1. J.L. Goldstein H.H. Hobbs M.S. Brown Familial hypercholesterolemia C. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic & molecular basis of inherited disease 2001 McGraw-Hill New York 2863 2914

2. Posttranslational processing of the LDL receptor and its genetic disruption in familial hypercholesterolemia;Tolleshaug;Cell,1982

3. A receptor-mediated pathway for cholesterol homeostasis;Brown;Science,1986

4. The LDL receptor gene: a mosaic of exons shared with different proteins;Südhof;Science,1985

5. The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein;Hobbs;Annu. Rev. Genet.,1990

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