The Hsd17b13P260S patient variant knock-in male mouse model provides translational insights into HSD17B13 biology.

doi:10.1016/j.ebiom.2026.106429

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Article

The Hsd17b13P260S patient variant knock-in male mouse model provides translational insights into HSD17B13 biology.

EBioMedicine - 1 Sept 2026

Slabber Coenraad F, Lenkeit Felina, Grove Kerri, Aebi Alexandra, Orsini Vanessa, Reyes Alejandro, Ludwig Vanessa, Crochemore Christophe, Bergling Sebastian, Wild Sophia, Naumann Ulrike, Enos Karyn, Abrams Austin S, Zeller Hansjoerg, Bhol Raj, Wang Louis, Redmond Emily, Wetzel Kristie, Capodieci Paola, Heikelä Hanna, Martinez-Nieto Guillermo, Mairinoja Laura, Sipilä Petra, Strauss Leena, Baumgarten Birgit U, George Elizabeth L, Heim Markus, Terracciano Luigi, Bouwmeester Antonius, Tchorz Jan S, Poutanen Matti, Ruffner Heinz, Bordoli Mattia R

Abstract excerpt

BACKGROUND: Metabolic dysfunction-associated steatotic liver disease (MASLD) is a prevalent liver disease that can progress to metabolic dysfunction-associated steatohepatitis (MASH), a condition marked by inflammation and fibrosis that increases the risk of cirrhosis, liver failure, and hepatocellular carcinoma. Loss-of-function (LoF) variants of hydroxysteroid 17-β dehydrogenase 13 (HSD17B13), a lipid...

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Topics

Animals
Male
Mice

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

Humans

Disease Models, Animal

17-Hydroxysteroid Dehydrogenases

Gene Knock-In Techniques

Fatty Liver

Liver

Phenotype

Gene Expression Profiling

Spatial Transcriptomics

Source

Open in PubMed Open full text

Identifiers

PMID: 42600259
DOI: 10.1016/j.ebiom.2026.106429
PMCID: PMC13499355

Genes

HSD17B13
CCND1

Provenance

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

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