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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Bibliografski detalji
Izdano u:FEBS Open Bio
Glavni autori: Kizhakkedath, Praseetha, John, Anne, Al‐Sawafi, Buthaina K., Al‐Gazali, Lihadh, Ali, Bassam R.
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2019
Teme:
Research Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6823279/
https://ncbi.nlm.nih.gov/pubmed/31587492
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/2211-5463.12740
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