A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Abstract excerpt

For many inborn errors of metabolism (IEM) the understanding of disease mechanisms remains limited in part explaining their unmet medical needs. We hypothesize that the expressivity of IEM disease phenotypes is affected by the activity of specific modifier pathways, which is controlled by rare and common polygenic variation. To identify these modulating pathways, we used RNA sequencing to generate molecular signat...

Topics

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• Exercise
• Gaucher Disease
• Gene Regulatory Networks
• Metabolism, Inborn Errors
• Mutation
• Phenotype
• Signal Transduction
• Transcriptome

Identifiers and source

Literature Corpus work

9dfe7c1a-992c-528f-b43f-5fa6542f25b8

DOI

10.1101/2025.02.19.639093