Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1‐dependent TFEB/TFE3 regulation

Abstract Vacuolar protein sorting 41 (VPS41) is as part of the Homotypic fusion and Protein Sorting (HOPS) complex required for lysosomal fusion events and, independent of HOPS, for regulated secretion. Here, we report three patients with compound heterozygous mutations in VPS41 (VPS41S285P and VPS4...

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Bibliographic Details
Main Authors: Reini E N van der Welle, Rebekah Jobling, Christian Burns, Paolo Sanza, Jan A van der Beek, Alfonso Fasano, Lan Chen, Fried J Zwartkruis, Susan Zwakenberg, Edward F Griffin, Corlinda ten Brink, Tineke Veenendaal, Nalan Liv, Conny M A van Ravenswaaij‐Arts, Henny H Lemmink, Rolph Pfundt, Susan Blaser, Carolina Sepulveda, Andres M Lozano, Grace Yoon, Teresa Santiago‐Sim, Cedric S Asensio, Guy A Caldwell, Kim A Caldwell, David Chitayat, Judith Klumperman
Format: Article
Language:English
Published: Springer Nature 2021-04-01
Series:EMBO Molecular Medicine
Subjects:
Autophagy
HOPS complex
lysosome‐associated disorder
mTORC1
TFEB/TFE3
Online Access:https://doi.org/10.15252/emmm.202013258

Internet

https://doi.org/10.15252/emmm.202013258

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