Article
Variants in autophagy genes MTMR12 and FAM134A are putative modifiers of the hepatic phenotype in α1-antitrypsin deficiency.
Hepatology (Baltimore, Md.) - 1 Oct 2024
Tafaleng Edgar N, Li Jie, Wang Yan, Hidvegi Tunda, Soto-Gutierrez Alex, Locke Adam E, Nicholas Thomas J, Wang Yung-Chun, Pak Stephen, Cho Michael H, Silverman Edwin K, Silverman Gary A, Jin Sheng Chih, Fox Ira J, Perlmutter David H
Abstract excerpt
BACKGROUND AND AIMS: In the classical form of α1-antitrypsin deficiency, a misfolded variant α1-antitrypsin Z accumulates in the endoplasmic reticulum of liver cells and causes liver cell injury by gain-of-function proteotoxicity in a sub-group of affected homozygotes but relatively little is known about putative modifiers. Here, we carried out genomic sequencing in a uniquely affected family with an index case...
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