Defining and rescuing pathomechanisms of myotubularin and autophagy disruption in a novel human cell model of Charcot-Marie-Tooth Type 4B3
Malika Sharma, Xinyi S Mao, Sarah Stumpf, Lan Wang, Jason P. Chua
This study creates a human cell model of CMT4B3 to show that motor neurons are most vulnerable to SBF1 mutations and that VPS34-IN1 can rescue cell death.
bioRxiv · Feb 5, 2026 · PreprintNeuroscience