Diana Piol

Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS

This study shows that injecting human FUS fibrils into mice with human FUS causes FUS aggregation and FTLD-like disease progression, with prion-like spread and cognitive deficits.

Wild-type FUS corrects ALS-like disease induced by cytoplasmic mutant FUS through autoregulation.

This study shows that wild-type FUS rescues ALS-like disease caused by mutant FUS by activating an autoregulatory loop that reduces cytoplasmic mutant FUS levels.

Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression program

This study shows polyglutamine-expanded androgen receptor disrupts muscle function by altering calcium dynamics and excitation-contraction coupling gene expression, which can be reversed by treatment.