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

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

More than 1700 mutations in the low density lipoprotein receptor (LDLR) gene have been found to cause familial hypercholesterolemia (FH). These are commonly divided into five classes based upon their effects on the structure and function of the LDLR. However, little is known about the mechanism by w...

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Bibliographic Details
Main Authors: Thea Bismo Strøm, Kristian Tveten, Jon K. Laerdahl, Trond P. Leren
Format: Article
Language:English
Published: Wiley 2014-01-01
Series:FEBS Open Bio
Subjects:
Endoplasmic reticulum
Familial hypercholesterolemia
LDL receptor
Metalloproteinase
Mutation
Transmembrane domain
Online Access:http://www.sciencedirect.com/science/article/pii/S2211546314000308

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http://www.sciencedirect.com/science/article/pii/S2211546314000308

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