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VPS35 Mutations in Parkinson Disease
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The VPS35 D620N mutation is linked to autosomal dominant Parkinson's disease (PARK17).
“Mutations in VPS35, such as D620N, are linked to autosomal dominant Parkinson’s disease (PARK17) [42, 46]”
From Stabilizing the retromer complex rescues synaptic dysfunction and endosomal trafficking deficits in an Alzheimer’s disease mouse model (2025) · cites this paper as [42]
The Abstract links VPS35 p.Asp620Asn (D620N) to an autosomal-dominant Parkinson disease kindred and reports the mutation in additional affected families. Our copy does not identify this condition as PARK17; a search for that designation found no passage supporting that part of the claim. (LLM, conf=0.88)
Experimental — accuracy not yet measuredAltered endosomal recycling has been implicated in neurodegenerative diseases, including Alzheimer's and Parkinson's disease.
“Altered endosomal recycling has been implicated in neurodegenerative diseases, including Alzheimer’s (Small et al., 2005; Small et al., 2017) and Parkinson’s disease (Vilariño-Güell et al., 2011; Zimprich et al., 2011; Zavodszky et al., 2014; McGough et al., 2014).”
From Recruitment of the SNX17-Retriever recycling pathway regulates synaptic function and plasticity (2023) · cites this paper as Vilariño-Güell et al., 2011
The VPS35(D620N) mutation causes an autosomal dominant form of Parkinson's disease.
“Disease causing mutations in Retromer have been identified in patients, including the VPS35(D620N) mutation which causes an autosomal dominant form of Parkinson's disease [53,54]”
From Global identification of neuronal and astrocytic integral membrane proteins that require Retromer for their endosomal recycling (2026) · cites this paper as [53]
A point mutation in VPS35 (D620N) is causative of an autosomal dominant form of Parkinson's disease.
“A point mutation in VPS35 (D620N) is causative of an autosomal dominant form of Parkinson’s disease (PD)16,17”
From Retromer stabilization results in neuroprotection in a model of Amyotrophic Lateral Sclerosis (2020) · cites this paper as [16]
Mutation in Vps35 gene has been identified in patients of late-onset Parkinson's disease.
“mutation in Vps35 gene has recently been identified in patients of late-onset Parkinson’s disease (PD; Vilariño-Güell et al., 2011; Zimprich et al., 2011)”
From VPS35 haploinsufficiency increases Alzheimer’s disease neuropathology (2011) · cites this paper as Vilariño-Güell et al., 2011
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Citations
Cites
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Cited by
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Metadata
- Authors
- Vilariño-Güell, C., Wider, C., Ross, O. A., Dachsel, J. C., Kachergus, J. M., Lincoln, S. J., Soto-Ortolaza, A. I., Cobb, S. A., Wilhoite, G. J., Bacon, J. A., Behrouz, B., Melrose, H. L., Hentati, E., Puschmann, A., Evans, D. M., Conibear, E., Wasserman, W. W., Aasly, J. O., Burkhard, P. R., Djaldetti, R., Ghika, J., Hentati, F., Krygowska-Wajs, A., Lynch, T., Melamed, E., Rajput, A., Rajput, A. H., Solida, A., Wu, R.-M., Uitti, R. J., Wszolek, Z. K., Vingerhoets, F., & Farrer, M. J.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2011-07
- Volume
- 89
- Issue
- 1
- Pages
- 162-167
- ISSN
- 0002-9297
- Cited by
- 800
- References
- 3
- Language
- en
- Update notices
- erratum (2011-08-12)
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