Longitudinal study of liver disease progression in the PEX1-Gly844Asp mouse model of mild Zellweger Spectrum Disorder

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Introduction</h4> Zellweger spectrum disorder (ZSD) is an autosomal recessive disorder caused by mutations in any of 13 PEX genes encoding proteins required for peroxisome assembly and function. Chronic liver disease is one of the major clinical manifestations in patients and impacts quality of life and survival. However, the pathophysiology of liver disease is ZSD remains largely unknown,...

Topics

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• ATPases Associated with Diverse Cellular Activities
• Bile Acids and Salts
• Cell Membrane
• Glucose-6-Phosphatase
• Hepatocytes
• Longitudinal Studies
• RNA-Seq
• Zellweger Syndrome

Identifiers and source

Literature Corpus work

408c1ce1-7da9-5c79-ac99-c2764700702c

DOI

10.1101/2025.05.08.652960