Motor Neuron Dysfunction in SORD Deficiency: Implications for Therapeutic Development in Peripheral Neuropathies
Giuseppina Divisato, Stefano Tozza, Emanuela Cascone, Elena Polishchuk, Maria Chiara Zizolfi, Emilia Giannino, Fiorella Marsella, Daniela Di Girolamo, Ciro Menale, Lucia Perone, Paolo Gianfico, Giovanni Cuda, Cecilia Bucci, Paolo Maiuri, Roman Polishchuk, , Silvia Parisi
This study establishes an in vitro model of SORD deficiency using iPSCs and identifies mitochondrial dysfunction and oxidative stress as key mechanisms, suggesting AR inhibition as a therapeutic target for CMT2/SORD and diabetic neuropathies.
bioRxiv · May 14, 2026 · PreprintCell Biology