I. Nishino

This study identifies a Dst-b mutation causing late-onset myopathy and cardiomyopathy in mice, revealing its critical role in striated muscle maintenance.

The paper evaluates the pathogenicity of novel DNM2 variants associated with centronuclear myopathy using an in cellulo imaging assay of T-tubule-like structures.

This study identifies SIDT2 as a mediator of microautophagy that delivers cytosolic proteins into lysosomes, linking proteostasis to protein aggregation disease.

This study introduces a novel RyR1 inhibitor that prevents and rescues MH and heat stroke in mouse models, offering improved solubility and clearance compared to dantrolene.