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.

Subvention : $100 000
Ce projet est cofinancé avec Richardson Trust Fund - une contribution de 45 000$.
Durée : un an

Dre Federica Morani et Dr Pietro Salvatore Carollo
Département de médecine et de chirurgie
“L'université ” Kore » d'Enna (UKE),
Bâtiment des sciences de la vie et de la technologie
Contrada Santa Panasia, 94100 Enna, Italie