Article

Disrupting Splicing Regulation to Rescue β-Catenin: A Novel Approach for Treating CTNNB1-Haploinsufficiency Disorder

2025-04-05

Abstract excerpt

Loss-of-function mutations in the CTNNB1 gene cause β-catenin deficiency, resulting in CTNNB1 syndrome—a rare neurodevelopmental disorder characterized by motor and cognitive impairments. Given the wide variety of mutations across CTNNB1 and its dosage sensitivity, a mutation-independent therapeutic approach that preserves endogenous gene regulation is critically needed. This study introduces spliceosome-mediate...

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Literature Corpus work: aeadc741-00d4-56ac-a404-55e1a1c0cf70
DOI: 10.1101/2025.04.01.646581

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