The applicant proposes to investigate the potential crosstalk between sacsin loss of function and disruption of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex as a mechanobiological contributor to ARSACS pathogenesis.

The rationale is based on sacsin’s known role as a molecular chaperone involved in cytoskeletal organization and prior observations from the lab on nuclear envelope changes in sacsin-deficient cells. The applicant hypothesizes that sacsin deficiency may impair LINC complex function, contributing to disease mechanisms through altered nuclear-cytoskeletal interactions.

Grant: $100,000
This project is jointly funded with the Richardson Trust Fund, contributing $45,000
Duration: One year

Dr. Federica Morani & Dr. Pietro Salvatore Carollo
Department of Medicine and Surgery
“Kore” University of Enna (UKE),
Bioscience and Technology Building
Contrada Santa Panasia, 94100 Enna, Italy