Dott.ssa Giorgia Pallafacchina
Ricercatore CNR-IN, Padova
SIGMAR1 and Motor Neuropathy: From Gene Identification to Cellular Homeostasis Disruption in dHMN Patients
18/06/2025 – ore 14:00
Abstract:
Distal hereditary motor neuropathies (dHMN) are a heterogeneous group of neurodegenerative disorders marked by selective motor neuron degeneration. Recent studies have identified loss-of-function mutations in SIGMAR1 as a genetic cause of a recessive form of dHMN. The presentation will outline the scientific journey of Dr. Pallafacchina’s group from the genetic identification of SIGMAR1 as a disease gene to the molecular dissection of the Sigma-1R protein role in ER-mitochondria tethering, Ca2+ signaling and proteostasis, and the consequences of its dysfunction on global cellular homeostasis in human cells from dHMN patients.
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