Raffaella Violano

TL;DR: The results strongly support the conclusion that an altered regulation of myogenesis and a downregulated mitochondrial biogenesis contribute to pathologic change in the muscle of patients with SMA.

TL;DR: The identification and functional characterization of novel ORAI1 mutations in TAM patients are reported, indicating a mutation‐dependent pathomechanism and a genotype/phenotype correlation, and the importance of SOCE in skeletal muscle physiology is emphasized, and new insights in the pathomeschanisms involving aberrant Ca2+ homeostasis and leading to muscle dysfunction are provided.

TL;DR: Report for the first time potentially pathogenic SQSTM1 variants and expand the spectrum of VCP variants in sIBM to suggest that defects in neurodegenerative pathways may confer genetic susceptibility to s IBM and reinforce the mechanistic overlap in these neurodegnerative disorders.

TL;DR: It is demonstrated that mitochondrial biogenesis was impaired in limb-girdle muscular dystrophy (LGMD) 2D patients and mice and was associated with impaired OxPhos capacity and could be recovered by TSA changing chromatin conformation, or it could be overcome by NO activating a mitochondrial salvage pathway.

TL;DR: The results demonstrate that this Agl knockout mouse is a reliable model for human glycogenosis type III, as it recapitulates the essential phenotypic features of the disease.