Loss of the mechanistic target of rapamycin complexes 1 (mTORC1) causes a lethal alpha-1 antitrypsin deficiency associated liver disease

Lisa Bewersdorf,Yizhao Luo, Annika Schmitz,Christian Preisinger,Thorsten Cramer,Pavel Strnad

Zeitschrift Fur Gastroenterologie（2023）

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摘要

Introduction Alpha1-antitrypsin (AAT) mutations lead to the retention of the otherwise secreted protein in the endoplasmic reticulum (ER) thereby giving rise to AAT deficiency (AATD). Liver disease arising due to the proteotoxic stress is the second leading cause of mortality in AATD.

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rapamycin complexes,antitrypsin deficiency,mtorc1,liver disease

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