Journal article
The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury
Abstract
Individuals harboring the loss-of-function (LOF) proprotein convertase subtilisin/kexin type 9 Gln152His variation (PCSK9Q152H) have low circulating low-density lipoprotein cholesterol levels and are therefore protected against cardiovascular disease (CVD). This uncleavable form of proPCSK9, however, is retained in the endoplasmic reticulum (ER) of liver hepatocytes, where it would be expected to contribute to ER storage disease (ERSD), a …
Authors
Lebeau PF; Wassef H; Byun JH; Platko K; Ason B; Jackson S; Dobroff J; Shetterly S; Richards WG; Al-Hashimi AA
Journal
Journal of Clinical Investigation, Vol. 131, No. 2,
Publisher
American Society for Clinical Investigation
Publication Date
January 19, 2021
DOI
10.1172/jci128650
ISSN
0021-9738