Thomas A. Cooper

This study investigates the role of LIMCH1 alternative splicing in skeletal muscle function, showing that mLIMCH1 is essential for muscle strength and calcium handling, and that its mis-splicing is linked to myotonic dystrophy type 1.

This study identifies overexpression of a non-muscle RBFOX2 isoform as a cause of cardiac conduction defects in myotonic dystrophy by inducing arrhythmia and altering ion channel splicing.

This study shows Rbfox1/2 regulate proteostasis in skeletal muscle by controlling calpain3 and autophagy, preventing muscle mass loss in adult mice.

The paper identifies alternative splicing transitions during postnatal skeletal muscle development and shows their role in calcium handling through calcineurin A isoform regulation.