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The loss-of-function PCSK9Q152H variant increases ER chaperones GRP78 and GRP94 and protects against liver injury.
Lebeau PF, Wassef H, Byun JH, Platko K, Ason B, Jackson S, Dobroff J, Shetterly S, Richards WG, Al-Hashimi AA, Won KD, Mbikay M, Prat A, Tang A, Paré G, Pasqualini R, Seidah NG, Arap W, Chrétien M, Austin RC. Lebeau PF, et al. J Clin Invest. 2021 Jan 19;131(2):e128650. doi: 10.1172/JCI128650. J Clin Invest. 2021. PMID: 33211673 Free PMC article.