Endoplasmic reticulum quality control of LDLR variants associated with familial hypercholesterolemia

Loss‐of‐function mutations in the low‐density lipoprotein receptor (LDLR) gene can cause familial hypercholesterolemia (FH), but detailed functional evidence for pathogenicity is limited to a few reported mutations. Here, we investigated the cellular pathogenic mechanisms of three mutations in LDLR...

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Detalles Bibliográficos
Autores principales: Kizhakkedath, Praseetha, John, Anne, Al‐Sawafi, Buthaina K., Al‐Gazali, Lihadh, Ali, Bassam R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823279/
https://www.ncbi.nlm.nih.gov/pubmed/31587492
http://dx.doi.org/10.1002/2211-5463.12740

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6823279/
https://www.ncbi.nlm.nih.gov/pubmed/31587492
http://dx.doi.org/10.1002/2211-5463.12740

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