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

Author:

van der Welle Reini E N1ORCID,Jobling Rebekah2,Burns Christian3,Sanza Paolo1,van der Beek Jan A1ORCID,Fasano Alfonso4567,Chen Lan3,Zwartkruis Fried J8ORCID,Zwakenberg Susan8,Griffin Edward F910,ten Brink Corlinda1,Veenendaal Tineke1,Liv Nalan1,van Ravenswaaij‐Arts Conny M A11,Lemmink Henny H11ORCID,Pfundt Rolph12,Blaser Susan13,Sepulveda Carolina45,Lozano Andres M671415,Yoon Grace2,Santiago‐Sim Teresa16,Asensio Cedric S3ORCID,Caldwell Guy A910ORCID,Caldwell Kim A910ORCID,Chitayat David217ORCID,Klumperman Judith1ORCID

Affiliation:

1. Section Cell Biology Center for Molecular Medicine Institute of Biomembranes University Medical Center UtrechtUtrecht University Utrecht The Netherlands

2. Department of Pediatrics Division of Clinical and Metabolic Genetics The Hospital for Sick Children University of Toronto Toronto ON Canada

3. Department of Biological Sciences Division of Natural Sciences and Mathematics University of Denver Denver CO USA

4. Edmond J. Safra Program in Parkinson’s Disease Morton and Gloria Shulman Movement Disorders Clinic Toronto Western Hospital, UHN Toronto ON Canada

5. Division of Neurology University of Toronto Toronto ON Canada

6. Krembil Brain Institute Toronto ON Canada

7. Center for Advancing Neurotechnological Innovation to Application (CRANIA) Toronto ON Canada

8. Section Molecular Cancer Research Center for Molecular Medicine University Medical Center UtrechtUtrecht University Utrecht The Netherlands

9. Department of Biological Sciences The University of Alabama Tuscaloosa AL USA

10. Department of Neurology Center for Neurodegeneration and Experimental Therapeutics Nathan Shock Center for Basic Research in the Biology of Aging University of Alabama at Birmingham School of Medicine Birmingham AL USA

11. Department of Genetics University Medical Center Groningen University of Groningen Groningen The Netherlands

12. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

13. Department of Diagnostic Imaging Hospital for Sick Children Toronto ON Canada

14. Department of Neurosurgery Toronto Western Hospital, UHN Toronto ON Canada

15. University of Toronto Toronto ON Canada

16. GeneDx, Inc Gaithersburg MD USA

17. The Prenatal Diagnosis and Medical Genetics Program Department of Obstetrics and Gynecology University of Toronto Toronto ON Canada

Funder

National Institutes of Health

ZonMw

Deutsche Forschungsgemeinschaft

Publisher

EMBO

Subject

Molecular Medicine

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