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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Detalles Bibliográficos
Autores principales: Strøm, Thea Bismo, Tveten, Kristian, Laerdahl, Jon K., Leren, Trond P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048843/
https://www.ncbi.nlm.nih.gov/pubmed/24918045
http://dx.doi.org/10.1016/j.fob.2014.03.007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4048843/
https://www.ncbi.nlm.nih.gov/pubmed/24918045
http://dx.doi.org/10.1016/j.fob.2014.03.007

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