ArticleBrain : a journal of neurology2021
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
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Article in Brain : a journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34 citing papers in PubMed, 50 citations in OpenAlex.
- Severe neurodevelopmental phenotype with multisystem involvement in VPS16-related mucopolysaccharidosis-like syndrome.Neurogenetics · 2026Article
- Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.Molecular genetics & genomic medicine · 2026Article
- BiallelicInternational journal of molecular sciences · 2026Article
- How Early Should I Refer My Patient? The Benefits of a Quick Ophthalmic Referral in Spinocerebellar Ataxias, a Case Series and Literature Review.Brain sciences · 2026Article
- Pathogenic variants in BORCS5 cause a spectrum of neurodevelopmental and neurodegenerative disorders with lysosomal dysfunction.The Journal of clinical investigation · 2026Article
- Autophagy and mitophagy at the synapse and beyond: implications for learning, memory and neurological disorders.Autophagy · 2026Review
- 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
- Natural history of SPTBN4-related neurodevelopmental disorder with hypotonia, neuropathy, and deafness.Orphanet journal of rare diseases · 2025Article
- VPS41 recruits biosynthetic LAMP-positive vesicles through interaction with Arl8b.The Journal of cell biology · 2025Article
- Polymeric Polylactic Acid-Glycolic Acid-Based Nanoparticles Deliver Nintedanib Across the Blood-Brain Barrier to Inhibit Glioblastoma Growth.International journal of molecular sciences · 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
- Article
- The space-time continuum in neurological disorders of the autophagosome-lysosome fusion machinery.Autophagy reports · 2025Review
- An initial HOPS-mediated fusion event is critical for autophagosome transport initiation from the axon terminal.Autophagy · 2024Article
- HOPS-dependent lysosomal fusion controls Rab19 availability for ciliogenesis in polarized epithelial cells.Journal of cell science · 2024Article
- Applying Proteomics and Computational Approaches to Identify Novel Targets in Blast-Associated Post-Traumatic Epilepsy.International journal of molecular sciences · 2024Article
- Endocytosis and Alzheimer's disease.GeroScience · 2024Review
- SMPD4 regulates mitotic nuclear envelope dynamics and its loss causes microcephaly and diabetes.Brain : a journal of neurology · 2023Article
- VPS72, a member of VPS protein family, can be used as a new prognostic marker for hepatocellular carcinoma.Immunity, inflammation and disease · 2023Article
- Vacuolar protein sorting 35 (VPS35) acts as a tumor promoter via facilitating cell cycle progression in pancreatic ductal adenocarcinoma.Functional & integrative genomics · 2023Article
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Authors and funding
56 authors at 16 institutions in 9 countries.
Leslie E SandersonDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Kristina LankoDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Maysoon AlsagobDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Rawan AlmassDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Nada Al-AhmadiDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Maryam NajafiGenome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.
Mohammad A Al-MuhaizeaDepartment of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Hamad AlzaidanDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Hesham AlDhalaanDepartment of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Elena PerenthalerDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Herma C van der LindeDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Anita NikoncukDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Nikolas A KühnDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Dinu AntonyCenter for Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg University, Faculty of Medicine, Freiburg 79106, Germany.
Tarek Mustafa OwaidahDepartment of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Salmo RaskinPositivo University Medical School, Curitiba, Parana, 81280-330, Brazil.
Luana Gabriela Dalla Rosa VieiraUniversidade da Região de Joinville, Pós-Graduação em Saúde e Meio Ambiente, Joinville, Santa Catarina, 89219-710.
Romulo MombachNúcleo de Assistência Integral ao Paciente Especial, Prefeitura de Joinvile, Joinvile, Santa Catarina, 89202-450, Brazil.
Najmeh AhangariDepartment of Medical Genetics and Molecular Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, 9177899191, Mashhad, Iran.
Tainá Regina Damaceno SilveiraCENTOGENE GmbH, 18055 Rostock.
Najim AmezianeCENTOGENE GmbH, 18055 Rostock.
Arndt RolfsCENTOGENE GmbH, 18055 Rostock.
Aljohara AlharbiDepartment of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Raghda M SabbaghDepartment of Pathology and Laboratory Medicine, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Khalid AlAhmadiDepartment of Neurosciences, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Bashayer AlawamDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Hazem GhebehStem Cell and Tissue Re-engineering Program, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Aljouhra AlHarganDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Anoud A AlbaderDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Faisal S BinhumaidDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Ewa GoljanDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Dorota MoniesDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Osama M MustafaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Mazhor AldosaryDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Albandary AlBakheetDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Banan AlyounesDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Faten AlmutairiDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Ali Al-OdaibDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Durdane Bekar AksoyGaziosmanpasa University, School of Medicine, Neurology Dept. Tokat, 8FJH+CW Tokat, Merkez/Tokat, Turkey.
A Nazli BasakKoc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey.
Robin PalvadeauKoc University, School of Medicine, Suna and Inan Kirac Foundation, NDAL- KUTTAM, Davutpasa cad. No.4, 34010, Zeytinburnu, İstanbul, Turkey.
Daniah TrabzuniDepartment of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, and Baylor Genetics Laboratories, Houston, TX, USA.
Ehsan Ghayoor KarimianiMolecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK.
Brian F MeyerDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
Bedri KarakasDepartment of Molecular Oncology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Futwan Al-MohannaDepartment of Cell Biology, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Stefan T AroldDivision of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.
Dilek ColakDepartment of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, 11211, Kingdom of Saudi Arabia.
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Aida M Bertoli-AvellaCENTOGENE GmbH, 18055 Rostock.
Miriam SchmidtsGenome Research Division, Human Genetics Department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA, Nijmegen, The Netherlands.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Tjakko J van HamDepartment of Clinical Genetics, Erasmus MC University Medical Center, PO Box 2040, 3000 CA, Rotterdam, The Netherlands.
Namik KayaDepartment of Genetics, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Kingdom of Saudi Arabia.
King Faisal Specialist Hospital & Research Centre · SAErasmus MC · NLCentogene (Germany) · DEKing Abdulaziz City for Science and Technology · SAKoç University · TRNational Hospital for Neurology and Neurosurgery · GBRadboud University Nijmegen · NLBaylor College of Medicine · USCentre National de la Recherche Scientifique · FRMashhad University of Medical Sciences · IRSt George's, University of London · GBTokat Gaziosmanpaşa Üniversitesi · TRUniversidade da Região de Joinville · BRUniversidade Positivo · BRUniversity College London · GBUniversity Medical Center Freiburg · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies in vacuolar protein sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation of macromolecules and organelles and are linked to human disease. VPS proteins function as part of complexes such as the homotypic fusion and vacuole protein sorting (HOPS) tethering complex, composed of VPS11, VPS16, VPS18, VPS33A, VPS39 and VPS41. The HOPS-specific subunit VPS41 has been reported to promote viability of dopaminergic neurons in Parkinson's disease but to date has not been linked to human disease. Here, we describe five unrelated families with nine affected individuals, all carrying homozygous variants in VPS41 that we show impact protein function. All affected individuals presented with a progressive neurodevelopmental disorder consisting of cognitive impairment, cerebellar atrophy/hypoplasia, motor dysfunction with ataxia and dystonia, and nystagmus. Zebrafish disease modelling supports the involvement of VPS41 dysfunction in the disorder, indicating lysosomal dysregulation throughout the brain and providing support for cerebellar and microglial abnormalities when vps41 was mutated. This provides the first example of human disease linked to the HOPS-specific subunit VPS41 and suggests the importance of HOPS complex activity for cerebellar function.
Indexed as
AdolescentAdultAnimalsCerebellar AtaxiaChildChild, PreschoolFemaleGenetic Predisposition to DiseaseGenetic VariationHumansMaleNeurodevelopmental DisordersPedigreeProtein TransportVesicular Transport ProteinsYoung AdultVesicular Transport ProteinsVPS41 protein, humancerebellar ataxiamembrane traffickingneurodevelopmental disorderVPS41zebrafish disease modelling
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