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Transcriptomic-guided compound prioritization and proteomics validation for <i>HNRNPU</i> deficiency identify signalling correction

2026-05-07

Abstract excerpt

Heterogeneous nuclear ribonucleoprotein U (HNRNPU) deficiency is a rare genetic cause of neurodevelopmental disorders (NDDs) lacking targeted therapies. Here, we developed a transcriptomic-guided compound prioritization pipeline using Connectivity Map (CMap) analysis on multi-model transcriptomic signatures from HNRNPU -deficient human cells and mouse models. Ten compounds were selected through manual curation an...

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Identifiers and source

Literature Corpus work
7904c752-7a4c-5d5c-8a34-b2b6cec7947b
DOI
10.64898/2026.05.04.722615
Open publication

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Transcriptomic-guided compound prioritization and proteomics validation for <i>HNRNPU</i> deficiency identify signalling correctionDOI 10.64898/2026.05.04.722615
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