Sabrina Mazzucchi

This study shows that SMN loss in SMA Type II myoblasts causes genomic stress, leading to DNA damage and innate immune activation, which impairs myoblast differentiation.

The paper profiles the transcriptome of bone and cartilage in SMA patients and mouse models to identify molecular changes contributing to bone pathology.

The paper analyzes RNA-seq data from SMA Type II muscle tissue treated with Nusinersen, finding SMN restoration but persistent mitochondrial dysfunction and cellular stress.