A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

By A. Zimprich, A. Benet-Pagès, W. Struhal, E. Graf, S. Eck, Marc N. Offman, D. Haubenberger, S. Spielberger, E. Schulte, P. Lichtner and 24 more. American Journal of Human Genetics, 2011

886 citations recorded by the source corpus.

Subfields: Neurology

View Paper: https://www.semanticscholar.org/paper/6c920a2cac332fd130dd7c9d45e0d427286ba8b1

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Citations in the corpus

Past, Present, and Future of Parkinson’s Disease: A Special Essay on the 200th Anniversary of the Shaking Palsy (2017, positive): “35 homolog (VPS35) gene as the cause of autosomaldominant PD.(162,163) The p.”
A new pathway for mitochondrial quality control: mitochondrial‐derived vesicles (2014, background): “However, with mutations in Vps35 being recently linked to PD and Alzheimer’s disease (Vilarino-Guell et al, 2011; Zimprich et al, 2011), its role in MDV transport has emerged as an intriguing functional arc that may link defects in Vps35 with mitochondrial dysfunction.”
News from the protein mutability landscape. (2013, background): “Another important application is to the assessment of disease-related human variants [20,45,46].”
Parkin and PINK1 function in a vesicular trafficking pathway regulating mitochondrial quality control (2014, methodology): “In the time-course experiment, cells were treated with DMSO, 25 lM antimycin A, 25 lM antimycin A and 10 lM oligomycin, 25 lM antimycin A and 50 lM EUK134, and 20 lM CCCP for the indicated time prior to fixation.”
The Next-Generation Sequencing Revolution and Its Impact on Genomics (2013, positive): “For example, WES of a large pedigree identified a missense mutation in the affected individuals that also segregated with other families suffering from late-onset Parkinson disease (Vilariñ o-Gü ell et al., 2011; Zimprich et al., 2011), thus bolstering the significance of the association .”
The mitophagy pathway and its implications in human diseases (2023, background): “The occurrence of PD is correlated with mutations in some key proteins, like α-Synuclein (α-syn),(180) leucine-rich repeat kinase 2 (LRRK2),(181) protein DJ-1 (DJ-1),(182) F-Box protein 7 (Fbxo7)(183) and vacuolar protein sorting 35 (VPS35).(184) Deng et al.”