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Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson’s disease
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Genetic studies have identified many genes associated with the endosomal network as causal for neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis.
“Genetic studies have identified many genes associated with the endosomal network to be causal for numerous neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, and Amyotrophic Lateral Sclerosis [1][2][3][4][5][6][7].”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [3]
The Introduction identifies a mutation in the retromer gene VPS35 as a rare cause of Parkinson’s disease. The paper does not address Alzheimer’s disease or amyotrophic lateral sclerosis, and its Discussion says mutations in the other retromer genes studied do not play a major role in Parkinson’s disease risk in this population. It therefore supports one example, not the broader claim attributed to it. (LLM, conf=0.88)
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Citations
Cites
No references could be resolved yet.
Research works printed but not linked: 7
- Bi, 2013, Pathogenic mutation in VPS35 impairs its protection against MPP(+) cytotoxicity, Int. J. Biol. Sci., 9, 149, 10.7150/ijbs.5617 · DOI
- Bonifacino, 2006, Retrograde transport from endosomes to the trans-Golgi network, Nat. Rev. Mol. Cell Biol., 7, 568, 10.1038/nrm1985 · DOI
- Bugarcic, 2011, Vps26A and Vps26B subunits define distinct retromer complexes, Traffic, 12, 1759, 10.1111/j.1600-0854.2011.01284.x · DOI
- Koschmidder, 2014, Mutations in VPS26A are not a frequent cause of Parkinson's disease, Neurobiol. Aging, 35, 1512.e1, 10.1016/j.neurobiolaging.2013.12.016 · DOI
- MacLeod, 2013, RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk, Neuron, 77, 425, 10.1016/j.neuron.2012.11.033 · DOI · Paper page
- Vilarino-Guell, 2011, VPS35 mutations in Parkinson disease, Am. J. Hum. Genet., 89, 162, 10.1016/j.ajhg.2011.06.001 · DOI · Paper page
- Zimprich, 2011, A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease, Am. J. Hum. Genet., 89, 168, 10.1016/j.ajhg.2011.06.008 · DOI · Paper page
Cited by
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Jones, E., Adams, H., Chen, K.-E., Maroof, F., Ibbotson, T. M., Nakamura, Y., Banks, P. J., Healy, M. D., Lewis, P. A., Heesom, K. J., et al. (2026) · doi:10.64898/2026.05.14.724903
Metadata
- Authors
- Shannon, B., Soto-Ortolaza, A., Rayaprolu, S., Cannon, H. D., Labbé, C., Benitez, B. A., Choi, J., Lynch, T., Boczarska-Jedynak, M., Opala, G., Krygowska-Wajs, A., Barcikowska, M., Van Gerpen, J. A., Uitti, R. J., Springer, W., Cruchaga, C., Wszolek, Z. K., & Ross, O. A.
- Venue
- Neurobiology of Aging
- Publisher
- Elsevier BV
- Published
- 2014-08
- Volume
- 35
- Issue
- 8
- Pages
- 1958.e1-1958.e2
- ISSN
- 0197-4580
- PMC
- PMC4023811
- Cited by
- 21
- References
- 0
- Language
- en
- Funders
- Morris K. Udall Parkinson's Disease Research Center of Excellence (NINDS P50 #NS072187, NINDS R01 NS078086)
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