Loss of the Mechanistic Target of Rapamycin Complex 1 Causes a Lethal Alpha-1 Antitrypsin Deficiency-Associated Liver Disease.

doi:10.1016/j.jcmgh.2026.101824

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Article

Loss of the Mechanistic Target of Rapamycin Complex 1 Causes a Lethal Alpha-1 Antitrypsin Deficiency-Associated Liver Disease.

Cellular and molecular gastroenterology and hepatology - 1 Jan 2026

Bewersdorf Lisa, Haber Sophie, Volkert Ines, Remih Katharina, Gross Annika, Preisinger Christian, Kroll Linda, Cramer Thorsten, Gaisa Nadine Therese, Leypold Sophie, Rolle-Kampczyk Ulrike, Brunetti-Pierri Nicola, von Bergen Martin, Rosenberger Florian, Weiss Caroline, Guldiken Nurdan, Strnad Pavel

Abstract excerpt

BACKGROUND & AIMS: SERPINA1 mutations cause retention of the otherwise secreted alpha-1 antitrypsin and lead to the proteotoxic alpha-1 antitrypsin deficiency-related liver disease. As mechanistic target of rapamycin is a key coordinator of proteostasis, we studied its role in alpha-1 antitrypsin deficiency-related liver disease. METHODS: PiZ mice overexpressing the characteristic SERPINA1 mutation were mated...

Read the complete abstract on PubMed

Topics

Animals
alpha 1-Antitrypsin Deficiency
Mice
alpha 1-Antitrypsin

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Liver Diseases

Liver

Mechanistic Target of Rapamycin Complex 1

Proteomics

Disease Models, Animal

Female

Hepatocytes

Mice, Knockout

Humans

Mutation

Proteostasis

Source

Open in PubMed Open full text

Identifiers

PMID: 42248552
DOI: 10.1016/j.jcmgh.2026.101824
PMCID: PMC13543902

Genes

EBP
SERPINA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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