VPS41 recessive mutation causes ataxia and dystonia with retinal dystrophy and mental retardation by inhibiting HOPS function and mTORC1 signaling
R. E. N. van der Welle, R. Jobling, C. Burns, P. Sanza, C. ten Brink, A. Fasano, L. Chen, F. J. Zwartkruis, S. Zwakenberg, E. F. Griffin, J. van der Beek, T. Veenendaal, N. Liv, S. Blaser, C. Sepulveda, , J. Klumperman
This paper identifies VPS41 mutations causing neurodegenerative disease by disrupting HOPS function and mTORC1 signaling, leading to lysosomal dysfunction and impaired autophagy.
bioRxiv · Dec 18, 2019 · PreprintCell Biology