The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
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 [46]
The Abstract reports that VPS35 p.Asp620Asn (D620N) cosegregated with late-onset Parkinson disease in three families, including autosomal-dominant inheritance. Our copy does not use the PARK17 designation, so it does not verify that part of the claim. (LLM, conf=0.88)
Experimental — accuracy not yet measuredThe 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 [54]
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 [17]
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 Zimprich et al., 2011
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science · doi:10.1126/science.276.5321.2045 · Cited by 8,240
Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1
Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M. K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G., et al. (2004) · Science · doi:10.1126/science.1096284 · Cited by 3,481
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G., Barbosa, E. R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0901281 · Cited by 2,135
Flagged first, then by citations
Research works printed but not linked: 32
- Lang, 1998, Parkinson's disease. First of two parts, N. Engl. J. Med., 339, 1044, 10.1056/NEJM199810083391506 · DOI
- Bonifati, 1995, Familial Parkinson's disease: A clinical genetic analysis, Can. J. Neurol. Sci., 22, 272, 10.1017/S0317167100039469 · DOI
- Payami, 1994, Increased risk of Parkinson's disease in parents and siblings of patients, Ann. Neurol., 36, 659, 10.1002/ana.410360417 · DOI
- Zimprich, 2004, Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology, Neuron, 44, 601, 10.1016/j.neuron.2004.11.005 · DOI
- Bonifati, 2003, Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism, Science, 299, 256, 10.1126/science.1077209 · DOI
- Kitada, 1998, Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism, Nature, 392, 605, 10.1038/33416 · DOI · Paper page
- Paisán-Ruíz, 2004, Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease, Neuron, 44, 595, 10.1016/j.neuron.2004.10.023 · DOI
- Johnson, 2004, SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies, Neurology, 63, 554, 10.1212/01.WNL.0000133401.09043.44 · DOI
- Gilks, 2005, A common LRRK2 mutation in idiopathic Parkinson's disease, Lancet, 365, 415
- Nichols, 2005, Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease, Lancet, 365, 410
- Di Fonzo, 2005, A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease, Lancet, 365, 412, 10.1016/S0140-6736(05)17829-5 · DOI · Paper page
- Aharon-Peretz, 2004, Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews, N. Engl. J. Med., 351, 1972, 10.1056/NEJMoa033277 · DOI · Paper page
- Simón-Sánchez, 2009, Genome-wide association study reveals genetic risk underlying Parkinson's disease, Nat. Genet., 41, 1308, 10.1038/ng.487 · DOI · Paper page
- Satake, 2009, Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease, Nat. Genet., 41, 1303, 10.1038/ng.485 · DOI
- Nalls, 2011, Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies, Lancet, 377, 641, 10.1016/S0140-6736(10)62345-8 · DOI
- Hughes, 1992, Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases, J. Neurol. Neurosurg. Psychiatry, 55, 181, 10.1136/jnnp.55.3.181 · DOI · Paper page
- Wichmann, 2005, KORA-gen–resource for population genetics, controls and a broad spectrum of disease phenotypes, Gesundheitswesen, 67, 26, 10.1055/s-2005-858226 · DOI
- Ramensky, 2002, Human non-synonymous SNPs: server and survey, Nucleic Acids Res., 30, 3894, 10.1093/nar/gkf493 · DOI
- Bromberg, 2007, SNAP: predict effect of non-synonymous polymorphisms on function, Nucleic Acids Res., 35, 3823, 10.1093/nar/gkm238 · DOI
- Abecasis, 2002, Merlin—Rapid analysis of dense genetic maps using sparse gene flow trees, Nat. Genet., 30, 97, 10.1038/ng786 · DOI
- Bonifacino, 2006, Retrograde transport from endosomes to the trans-Golgi network, Nat. Rev. Mol. Cell Biol., 7, 568, 10.1038/nrm1985 · DOI
- Rojas, 2007, Interchangeable but essential functions of SNX1 and SNX2 in the association of retromer with endosomes and the trafficking of mannose 6-phosphate receptors, Mol. Cell. Biol., 27, 1112, 10.1128/MCB.00156-06 · DOI
- Damen, 2006, The human Vps29 retromer component is a metallo-phosphoesterase for a cation-independent mannose 6-phosphate receptor substrate peptide, Biochem. J., 398, 399, 10.1042/BJ20060033 · DOI
- Braschi, 2010, Vps35 mediates vesicle transport between the mitochondria and peroxisomes, Curr. Biol., 20, 1310, 10.1016/j.cub.2010.05.066 · DOI
- Korolchuk, 2007, Drosophila Vps35 function is necessary for normal endocytic trafficking and actin cytoskeleton organisation, J. Cell Sci., 120, 4367, 10.1242/jcs.012336 · DOI · Paper page
- Willnow, 2008, VPS10P-domain receptors—Regulators of neuronal viability and function, Nat. Rev. Neurosci., 9, 899, 10.1038/nrn2516 · DOI
- Rogaeva, 2007, The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease, Nat. Genet., 39, 168, 10.1038/ng1943 · DOI · Paper page
- Hierro, 2007, Functional architecture of the retromer cargo-recognition complex, Nature, 449, 1063, 10.1038/nature06216 · DOI · Paper page
- Krivov, 2009, Improved prediction of protein side-chain conformations with SCWRL4, Proteins, 77, 778, 10.1002/prot.22488 · DOI
- Hess, 2008, GROMACS 4: Algorithms for highly efficient, load-balanced, and scalable molecular simulation, J. Chem. Theory Comput., 4, 435, 10.1021/ct700301q · DOI
- Duan, 2003, A point-charge force field for molecular mechanics simulations of proteins based on condensed-phase quantum mechanical calculations, J. Comput. Chem., 24, 1999, 10.1002/jcc.10349 · DOI
- Mahoney, 2000, A five-site model for liquid water and the reproduction of the density anomaly by rigid, nonpolarizable potential functions, J. Chem. Phys., 112, 8910, 10.1063/1.481505 · DOI
Cited by
Sorted by citations
Inflammation and immune dysfunction in Parkinson disease
Tansey, M. G., Wallings, R. L., Houser, M. C., Herrick, M. K., Keating, C. E., & Joers, V. (2022) · Nature Reviews Immunology · doi:10.1038/s41577-022-00684-6 · Cited by 1,382
A new pathway for mitochondrial quality control: Mitochondrial-derived vesicles
Sugiura, A., McLelland, G., Fon, E. A., & McBride, H. M. (2014) · The EMBO Journal · doi:10.15252/embj.201488104 · Cited by 862
Obeso, J. A., Stamelou, M., Goetz, C. G., Poewe, W., Lang, A. E., Weintraub, D., Burn, D., Halliday, G. M., Bezard, E., Przedborski, S., et al. (2017) · Movement Disorders · doi:10.1002/mds.27115 · Cited by 859
“35 homolog (VPS35) gene as the cause of autosomaldominant PD.(162,163) The p.”
Self-citationCompromised autophagy and neurodegenerative diseases
Menzies, F. M., Fleming, A., & Rubinsztein, D. C. (2015) · Nature Reviews Neuroscience · doi:10.1038/nrn3961 · Cited by 851
To degrade or not to degrade: Mechanisms and significance of endocytic recycling
Cullen, P. J., & Steinberg, F. (2018) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-018-0053-7 · Cited by 590
The genetics of Parkinson disease
Deng, H., Wang, P., & Jankovic, J. (2018) · Ageing Research Reviews · doi:10.1016/j.arr.2017.12.007 · Cited by 530
Park, J.-S., Davis, R. L., & Sue, C. M. (2018) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-018-0829-3 · Cited by 516
Zavodszky, E., Seaman, M. N. J., Moreau, K., Jimenez-Sanchez, M., Breusegem, S. Y., Harbour, M. E., & Rubinsztein, D. C. (2014) · Nature Communications · doi:10.1038/ncomms4828 · Cited by 466
Genetics in Parkinson disease: Mendelian versus non‐Mendelian inheritance
Hernandez, D. G., Reed, X., & Singleton, A. B. (2016) · Journal of Neurochemistry · doi:10.1111/jnc.13593 · Cited by 448
“Overall, VPS35 mutations are a rare cause of PD accounting for only about 1% of familial parkinsonism and 0.2% of sporadic PD (Zimprich et al. 2011; Lesage et al. 2012; Nuytemans et al. 2013).”
BackgroundInfluentialRetromer: A Master Conductor of Endosome Sorting
Burd, C., & Cullen, P. J. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016774 · Cited by 435
Guerreiro, R. J., Lohmann, E., Brás, J. M., Gibbs, J. R., Rohrer, J. D., Gurunlian, N., Dursun, B., Bilgic, B., Hanagasi, H., Gurvit, H., et al. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.579 · Cited by 374
Lucin, K. M., O’Brien, C. E., Bieri, G., Czirr, E., Mosher, K. I., Abbey, R. J., Mastroeni, D. F., Rogers, J., Spencer, B., Masliah, E., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.06.046 · Cited by 374
VPS35 haploinsufficiency increases Alzheimer’s disease neuropathology
Wen, L., Tang, F.-L., Hong, Y., Luo, S.-W., Wang, C.-L., He, W., Shen, C., Jung, J.-U., Xiong, F., Lee, D.-H., et al. (2011) · Journal of Cell Biology · doi:10.1083/jcb.201105109 · Cited by 270
Tang, F.-L., Erion, J. R., Tian, Y., Liu, W., Yin, D.-M., Ye, J., Tang, B., Mei, L., & Xiong, W.-C. (2015) · Journal of Neuroscience · doi:10.1523/jneurosci.0042-15.2015 · Cited by 269
Lysosomal adaptation: how the lysosome responds to external cues
Settembre, C., & Ballabio, A. (2014) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a016907 · Cited by 126
Disease model organism for Parkinson disease: Drosophila melanogaster
Aryal, B., & Lee, Y. (2019) · BMB Reports · doi:10.5483/bmbrep.2019.52.4.204 · Cited by 111
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer’s disease
Nicolas, G., Acuña‐Hidalgo, R., Keogh, M. J., Quenez, O., Steehouwer, M., Lelieveld, S., Rousseau, S., Richard, A., Oud, M. S., Marguet, F., et al. (2018) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2018.06.3056 · Cited by 81
Targeting the Autophagy/Lysosomal Degradation Pathway in Parkinsons Disease
Rivero-Ríos, P., Madero-Pérez, Fernández, B., & Hilfiker, S. (2016) · Current Neuropharmacology · doi:10.2174/1570159x13666151030103027 · Cited by 69
Retromer stabilization results in neuroprotection in a model of Amyotrophic Lateral Sclerosis
Muzio, L., Sirtori, R., Gornati, D., Eleuteri, S., Fossaghi, A., Brancaccio, D., Manzoni, L., Ottoboni, L., Feo, L. D., Quattrini, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-17524-7 · Cited by 65
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Di Fruscio, G., Schulz, A., De Cegli, R., Savarese, M., Mutarelli, M., Parenti, G., Banfi, S., Braulke, T., Nigro, V., & Ballabio, A. (2015) · Autophagy · doi:10.1080/15548627.2015.1043077 · Cited by 62
Receptor Recycling by Retromer
Carosi, J. M., Denton, D., Kumar, S., & Sargeant, T. J. (2023) · Molecular and Cellular Biology · doi:10.1080/10985549.2023.2222053 · Cited by 36
Retromer dysfunction at the nexus of tauopathies
Carosi, J. M., Denton, D., Kumar, S., & Sargeant, T. J. (2021) · Cell Death & Differentiation · doi:10.1038/s41418-020-00727-2 · Cited by 16
Risk prediction for complex diseases: application to Parkinson disease
Hall, T. O., Wan, J. Y., Mata, I. F., Kerr, K. F., Snapinn, K. W., Samii, A., Roberts, J. W., Agarwal, P., Zabetian, C. P., & Edwards, K. L. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.109 · Cited by 16
Recruitment of the SNX17-Retriever recycling pathway regulates synaptic function and plasticity
Rivero-Ríos, P., Tsukahara, T., Uygun, T., Chen, A., Chavis, G. D., Giridharan, S. S. P., Iwase, S., Sutton, M. A., & Weisman, L. S. (2023) · Journal of Cell Biology · doi:10.1083/jcb.202207025 · Cited by 17
Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathy
Kato, K., Nishio, Y., McMillan, K. J., Al-Maraghi, A., Kroes, H. Y., Abdel-Hamid, M. S., Jones, E., Shaw, S., Yoshida, A., Otsuji, S., et al. (2025) · Science Translational Medicine · doi:10.1126/scitranslmed.adt2426 · Cited by 7
Ramonet, D., Daerr, A., & Hallbeck, M. (2025) · Acta Neuropathologica Communications · doi:10.1186/s40478-025-02096-8 · Cited by 7
PI(3)P coordinates SNX17- and SNX27-dependent protein recycling for long-term synaptic plasticity
Rivero-Ríos, P., Uygun, T., Chavis, G. D., Lee, H., Duan, B., Sutton, M. A., & Weisman, L. S. (2025) · Journal of Cell Biology · doi:10.1083/jcb.202411198 · Cited by 1
Endosomal protein DENND10 promotes developmental competence of neurite extension
Li, A., Zhang, J., Ma, C., Qi, L., Hu, Q., Li, Q., Fang, Y., Song, J., Liu, Y., & Zhang, Y. (2025) · iScience · doi:10.1016/j.isci.2025.112385
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
- Zimprich, A., Benet-Pagès, A., Struhal, W., Graf, E., Eck, S. H., Offman, M. N., Haubenberger, D., Spielberger, S., Schulte, E. C., Lichtner, P., Rossle, S. C., Klopp, N., Wolf, E., Seppi, K., Pirker, W., Presslauer, S., Mollenhauer, B., Katzenschlager, R., Foki, T., Hotzy, C., Reinthaler, E., Harutyunyan, A., Kralovics, R., Peters, A., Zimprich, F., Brücke, T., Poewe, W., Auff, E., Trenkwalder, C., Rost, B., Ransmayr, G., Winkelmann, J., Meitinger, T., & Strom, T. M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2011-07
- Volume
- 89
- Issue
- 1
- Pages
- 168-175
- ISSN
- 0002-9297
- Cited by
- 816
- References
- 4
- Language
- en
- Licence
- Funders
- Bundesministerium für Bildung und Forschung (01GR0804-4)
- Helmholtz Zentrum München
- Münchner Zentrum für Gesundheitswissenschaften, Ludwig-Maximilians-Universität München
- Alexander von Humboldt-Stiftung
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
