Alberto Malerba

This study identifies Rpl3l as a muscle-specific ribosomal protein that regulates chromatin insulation in atrial cardiomyocytes, linking genome structure to cardiac rhythm stability.

This study identifies a stabilized PABPN1 variant, trPAB, that reduces aggregation and restores function in OPMD and bladder cancer models, supporting its potential as a gene therapy.

This study shows that periostin exon 17 skipping combined with AAV-microdystrophin improves muscle function and microdystrophin expression in a fibrotic DMD model.

This study shows that systemic antisense therapy targeting DUX4 improves muscle function in an FSHD mouse model by reducing DUX4 expression and associated pathology.

This study shows that guanabenz acetate reduces PABPN1 aggregates and improves muscle function in an OPMD mouse model by modulating the UPR.