Laura Fumagalli

Hexanucleotide repeat expansions in C9orf72 alter microglial responses and prevent a coordinated glial reaction in ALS

This study shows that C9orf72 hexanucleotide repeat expansions impair microglial function and disrupt glial communication in ALS, contributing to disease risk.

Human motor units in microfluidic devices are impaired by FUS mutations and improved by HDAC6 inhibition

This study uses a microfluidic model of human motor units to show that FUS mutations impair neurite outgrowth and NMJ formation, which can be mitigated by HDAC6 inhibition.

C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility

This study shows that C9orf72 repeat expansions produce toxic arginine-rich DPRs that disrupt axonal transport by interacting with microtubules and motor proteins, contributing to ALS/FTD.