ArticleEMBO molecular medicine2021
Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation.
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Article in EMBO molecular medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29citing papers in PubMed
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Who cites it
29 citing papers in PubMed, 53 citations in OpenAlex.
- Ion transport as a determinant of membrane fusion and fission.Nature structural & molecular biology · 2026Review
- Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.Molecular genetics & genomic medicine · 2026Article
- Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.The Journal of clinical investigation · 2026Article
- NPC1 trafficking via VPS41-dependent LAMP carriers regulates endosomal cholesterol homeostasis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Article
- Neuropathy-associated Tecpr2 mutation knock-in mice reveal endolysosomal loss of function phenotypes in neurons and microglia.Cell death & disease · 2025Article
- Dominant spinal muscular atrophy linked mutations in the cargo binding domain of BICD2 result in altered interactomes and dynein hyperactivity.bioRxiv : the preprint server for biology · 2025Article
- VPS41 recruits biosynthetic LAMP-positive vesicles through interaction with Arl8b.The Journal of cell biology · 2025Article
- VPS18 contributes to phagosome membrane integrity inScience advances · 2025Article
- Emerging Molecular-Genetic Families in Dystonia: Endosome-Autophagosome-Lysosome and Integrated Stress Response Pathways.Movement disorders : official journal of the Movement Disorder Society · 2025Review
- An initial HOPS-mediated fusion event is critical for autophagosome transport initiation from the axon terminal.Autophagy · 2024Article
- Structure of the endosomal CORVET tethering complex.Nature communications · 2024Article
- Corynoxine promotes TFEB/TFE3-mediated autophagy and alleviates Aβ pathology in Alzheimer's disease models.Acta pharmacologica Sinica · 2024Article
- Loss of the HOPS complex disrupts early-to-late endosome transition, impairs endosomal recycling and induces accumulation of amphisomes.Molecular biology of the cell · 2024Article
- HOPS-dependent lysosomal fusion controls Rab19 availability for ciliogenesis in polarized epithelial cells.Journal of cell science · 2024Article
- The Drosophila ZNRF1/2 homologue, detour, interacts with HOPS complex and regulates autophagy.Communications biology · 2024Article
- HOPS, CORVET and newly-identified Hybrid tethering complexes contribute differentially towards multiple modes of endocytosis.Scientific reports · 2023Article
- Back to the future through the wormhole: Caenorhabditis elegans as a preclinical model.Disease models & mechanisms · 2023Article
- Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels.Human genomics · 2023Article
- Integrated regulation of dopaminergic and epigenetic effectors of neuroprotection in Parkinson's disease models.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
Corrections and comments
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Authors and funding
26 authors at 7 institutions in 3 countries.
Reini E N van der WelleSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0002-5591-2846
Rebekah JoblingDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Christian BurnsDepartment of Biological Sciences, Division of Natural Sciences and Mathematics, University of Denver, Denver, CO, USA.
Paolo SanzaSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Jan A van der BeekSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0003-4957-9175
Alfonso FasanoEdmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, ON, Canada.
Lan ChenDepartment of Biological Sciences, Division of Natural Sciences and Mathematics, University of Denver, Denver, CO, USA.
Fried J ZwartkruisSection Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0001-5775-1313
Susan ZwakenbergSection Molecular Cancer Research, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Edward F GriffinDepartment of Biological Sciences, The University of Alabama, Tuscaloosa, AL, USA.
Corlinda Ten BrinkSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Tineke VeenendaalSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Nalan LivSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Conny M A van Ravenswaaij-ArtsDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
Henny H LemminkDepartment of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.ORCID 0000-0002-2748-803X
Rolph PfundtDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Susan BlaserDepartment of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON, Canada.
Carolina SepulvedaEdmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, ON, Canada.
Andres M LozanoKrembil Brain Institute, Toronto, ON, Canada.
Grace YoonDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.
Teresa Santiago-SimGeneDx, Inc, Gaithersburg, MD, USA.
Cedric S AsensioDepartment of Biological Sciences, Division of Natural Sciences and Mathematics, University of Denver, Denver, CO, USA.ORCID 0000-0002-2284-0217
Guy A CaldwellDepartment of Biological Sciences, The University of Alabama, Tuscaloosa, AL, USA.ORCID 0000-0002-8283-9090
Kim A CaldwellDepartment of Biological Sciences, The University of Alabama, Tuscaloosa, AL, USA.ORCID 0000-0003-1580-6122
David ChitayatDepartment of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.ORCID 0000-0003-1944-7294
Judith KlumpermanSection Cell Biology, Center for Molecular Medicine, Institute of Biomembranes, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.ORCID 0000-0003-4835-6228
Utrecht University · NLUniversity of Toronto · CAUniversity of Alabama · USUniversity of Denver · USUniversity Medical Center Groningen · NLHospital for Sick Children · CARadboud University Nijmegen · NL
Funding
Formation of the Regulated Secretory Pathway: a View from the CytosolR01GM124035 · NIGMS · UNIVERSITY OF DENVER (COLORADO SEMINARY) · PI ASENSIO, CEDRIC STEPHANE · 2017 to 2021
$1.5MInvestigating Neuroprotective Targets for Parkinson Disease Associated with AutopR15NS075684 · NINDS · UNIVERSITY OF ALABAMA IN TUSCALOOSA · PI CALDWELL, GUY A · 2011 to 2011
$411kCellular Mechanisms Controlling the Formation of Large Dense Core VesiclesR15GM116096 · NIGMS · UNIVERSITY OF DENVER (COLORADO SEMINARY) · PI ASENSIO, CEDRIC STEPHANE · 2015 to 2015
$360kNIGMS NIH HHS R01 GM124035NIGMS NIH HHS R15 GM116096NINDS NIH HHS R15 NS075684
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 (VPS41
Indexed as
Neurodegenerative DiseasesAnimalsAutophagyBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsCaenorhabditis elegansHeLa CellsHumansLysosomesMechanistic Target of Rapamycin Complex 1Protein TransportVesicular Transport ProteinsBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsMechanistic Target of Rapamycin Complex 1TFE3 protein, humanTFEB protein, humanVesicular Transport ProteinsVPS41 protein, humanAutophagyHOPS complexlysosome-associated disordermTORC1TFEB/TFE3
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