Fiorella Carla Grandi

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.

This study identifies NOTCH3 and GLIS3 as contributors to regeneration impairment in Duchenne Muscular Dystrophy using spatial transcriptomics and multiomic profiling.

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

This study identifies Loxl2 as a therapeutic target for LMNA cardiomyopathy by showing its role in ECM remodeling in patient-derived cardiomyocytes and mouse models.

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.

This study shows that C1q mediates chronic neuron loss and inflammation after brain injury by targeting the corticothalamic circuit in mice.

This study shows that BPA exposure in pregnant mice leads to transgenerational obesity via CTCF binding at Fto enhancers, which affects neural stem cells and AgRP/NPY neurons.