Liang Shi

This study identifies disulfide bonds mediating MBNL1 and MBNL2 dimerization, showing their role in alternative splicing regulation and RNA foci formation in myotonic dystrophy.

The paper investigates how neurodevelopmental disorder-associated variants affect mitochondrial proteins and finds convergent effects on mitochondrial translation in two high-risk CNVs.

This study shows that KIF5A ΔExon27 mutant causes neuronal toxicity through gain of function by forming aggregates and increasing motor activity.