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Role of VPS13, a protein with similarity to ATG2, in physiology and disease
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The Vps13 complex regulates endosomal recycling towards the Golgi, mitochondria, and autophagosomes by promoting organelle bilayer bridging, and has been implicated in mitochondrial dysfunction in neurodegenerative diseases, including atypical PARK23.
“The Vps13 complex regulates endosomal recycling towards the Golgi, mitochondria, and autophagosomes by promoting organelle bilayer bridging, and has been implicated in mitochondrial dysfunction in neurodegenerative diseases, including atypical PARK23 [40].”
From Stabilizing the retromer complex rescues synaptic dysfunction and endosomal trafficking deficits in an Alzheimer’s disease mouse model (2025) · cites this paper as [40]
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International Parkinson's Disease Genomics Consortium (IPDGC), Nalls, M. A., Parkinson's Study Group (PSG) Parkinson's Research: The Organized GENetics Initiative (PROGENI), 23andMe, GenePD, NeuroGenetics Research Consortium (NGRC), Hussman Institute of Human Genomics (HIHG), Investigator, T. A. J. D., (CHARGE), C. F. H. A. A. R. I. G. E., North American Brain Expression Consortium (NABEC), et al. (2014) · Nature Genetics · doi:10.1038/ng.3043 · Cited by 1,895
An ER-Mitochondria Tethering Complex Revealed by a Synthetic Biology Screen
Kornmann, B., Currie, E., Collins, S. R., Schuldiner, M., Nunnari, J., Weissman, J. S., & Walter, P. (2009) · Science · doi:10.1126/science.1175088 · Cited by 1,275
Gene essentiality and synthetic lethality in haploid human cells
Blomen, V. A., Májek, P., Jae, L. T., Bigenzahn, J. W., Nieuwenhuis, J., Staring, J., Sacco, R., van Diemen, F. R., Olk, N., Stukalov, A., et al. (2015) · Science · doi:10.1126/science.aac7557 · Cited by 857
Seifert, W., Kühnisch, J., Maritzen, T., Horn, D., Haucke, V., & Hennies, H. C. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.267971 · Cited by 152
Recessive mutations in VPS13D cause childhood onset movement disorders
Gauthier, J., Meijer, I. A., Lessel, D., Mencacci, N. E., Krainc, D., Hempel, M., Tsiakas, K., Prokisch, H., Rossignol, E., Helm, M. H., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25204 · Cited by 127
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Sorted by citations
VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1
Ugur, B., Schueder, F., Shin, J., Hanna, M. G., Wu, Y., Leonzino, M., Su, M., McAdow, A. R., Wilson, C., Postlethwait, J., et al. (2024) · Journal of Cell Biology · doi:10.1083/jcb.202311189 · Cited by 18
Self-citationRamonet, D., Daerr, A., & Hallbeck, M. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-02096-8 · Cited by 7
Metadata
- Authors
- Ugur, B., Hancock-Cerutti, W., Leonzino, M., & De Camilli, P.
- Venue
- Current Opinion in Genetics & Development
- Publisher
- Elsevier BV
- Published
- 2020-12
- Volume
- 65
- Pages
- 61-68
- ISSN
- 0959-437X
- PMC
- PMC7746581
- Cited by
- 73
- References
- 5
- Language
- en
- Funders
- National Institutes of Health
- Parkinson's Foundation
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