Ontology highlight
ABSTRACT:
SUBMITTER: Kizhakkedath P
PROVIDER: S-EPMC6823279 | biostudies-literature | 2019 Nov
REPOSITORIES: biostudies-literature
Kizhakkedath Praseetha P John Anne A Al-Sawafi Buthaina K BK Al-Gazali Lihadh L Ali Bassam R BR
FEBS open bio 20191023 11
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 causing FH, which are structurally identical to pathogenic mutations in the very low-density lipoprotein receptor (VLDLR). Similar to the VLDLR mutants, LDLR mutants D482H and C667F were found to be l ...[more]