Neil A. Roberts

Mini-agrin prevents calcium leakage and restores the dystrophin complex.

The paper shows mini-agrin prevents calcium leakage and restores the dystrophin complex in dystrophic muscle cells by stabilizing CaV1.1 and reconstituting dystrophin complex components.

Genomic and biological panoramas of non-muscle actinopathies

The paper analyzes clinical and mechanistic data from individuals with ACTB/ACTG1 variants to identify distinct disease phenotypes and molecular mechanisms of non-muscle actinopathies.

Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome.

This paper demonstrates that AAV-mediated HPSE2 gene transfer improves bladder function in a mouse model of urofacial syndrome by restoring neurogenic relaxation.