CoChat
Sign Up
Cited by 25

The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.

Endosomal sorting pathways in the pathogenesis of Parkinson's disease

·2020·Progress in Brain Research
DOI 10.1016/bs.pbr.2020.02.001PMC PMC7206894
Open this paper in CoChat — free account

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.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/bs.pbr.2020.02.001

Cites

18 of 18 references verified0 citation errors · 0 not checkable

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.

A few free checks a day · papers already verified open instantly · results are public

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?

  • 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 [5]

    The section “Genetics lead the way to understanding Parkinson’s disease pathogenesis” (page unavailable) links familial Parkinson’s disease genes to the endolysosomal system. The cited paper does not establish the corresponding claim about causal endosomal-network genes in Alzheimer’s disease or amyotrophic lateral sclerosis; searches for those diseases did not find supporting discussion. (LLM, conf=0.86)

    Experimental — accuracy not yet measured

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

Flagged first, then by citations

Research works printed but not linked: 180

  1. Abeliovich, 2016, Defects in trafficking bridge Parkinson's disease pathology and genetics, Nature, 539, 207, 10.1038/nature20414 · DOI · Paper page
  2. Alegre-Abarrategui, 2009, LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model, Hum. Mol. Genet., 18, 4022, 10.1093/hmg/ddp346 · DOI
  3. Ambroso, 2014, Endophilin A1 induces different membrane shapes using a conformational switch that is regulated by phosphorylation, Proc. Natl. Acad. Sci. U. S. A., 111, 6982, 10.1073/pnas.1402233111 · DOI
  4. Andersen, 2018, PFE-360-induced LRRK2 inhibition induces reversible, non-adverse renal changes in rats, Toxicology, 395, 15, 10.1016/j.tox.2018.01.003 · DOI
  5. Andres-Mateos, 2009, Unexpected lack of hypersensitivity in LRRK2 knock-out mice to MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine), J. Neurosci., 29, 15846, 10.1523/JNEUROSCI.4357-09.2009 · DOI
  6. Appel, 2018, Increased microglial activity, impaired adult hippocampal neurogenesis, and depressive-like behavior in microglial VPS35-depleted mice, J. Neurosci., 38, 5949, 10.1523/JNEUROSCI.3621-17.2018 · DOI
  7. Appel-Cresswell, 2013, Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease, Mov. Disord., 28, 811, 10.1002/mds.25421 · DOI
  8. Arighi, 2004, Role of the mammalian retromer in sorting of the cation-independent mannose 6-phosphate receptor, J. Cell Biol., 165, 123, 10.1083/jcb.200312055 · DOI · Paper page
  9. Baptista, 2013, Loss of leucine-rich repeat kinase 2 (LRRK2) in rats leads to progressive abnormal phenotypes in peripheral organs, PLoS One, 8, 10.1371/journal.pone.0080705 · DOI
  10. Beilina, 2014, Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease, Proc. Natl. Acad. Sci. U. S. A., 111, 2626, 10.1073/pnas.1318306111 · DOI · Paper page
  11. Berger, 2010, Membrane localization of LRRK2 is associated with increased formation of the highly active LRRK2 dimer and changes in its phosphorylation, Biochemistry, 49, 5511, 10.1021/bi100157u · DOI
  12. Berman, 2015, The use of pharmacological retromer chaperones in Alzheimer's disease and other endosomal-related disorders, Neurotherapeutics, 12, 12, 10.1007/s13311-014-0321-y · DOI · Paper page
  13. Bieri, 2019, LRRK2 modifies alpha-syn pathology and spread in mouse models and human neurons, Acta Neuropathol., 137, 961, 10.1007/s00401-019-01995-0 · DOI
  14. Biskup, 2009, Zeroing in on LRRK2-linked pathogenic mechanisms in Parkinson's disease, Biochim. Biophys. Acta, 1792, 625, 10.1016/j.bbadis.2008.09.015 · DOI
  15. Biskup, 2006, Localization of LRRK2 to membranous and vesicular structures in mammalian brain, Ann. Neurol., 60, 557, 10.1002/ana.21019 · DOI
  16. Blauwendraat, 2018, Frequency of loss of function variants in LRRK2 in Parkinson disease, JAMA Neurol., 75, 1416, 10.1001/jamaneurol.2018.1885 · DOI
  17. Blauwendraat, 2020, The genetic architecture of Parkinson's disease, Lancet Neurol., 19, 170, 10.1016/S1474-4422(19)30287-X · DOI · Paper page
  18. Boddu, 2015, Leucine-rich repeat kinase 2 deficiency is protective in rhabdomyolysis-induced kidney injury, Hum. Mol. Genet., 24, 4078, 10.1093/hmg/ddv147 · DOI
  19. Bonet-Ponce, 2019, The role of Rab GTPases in the pathobiology of Parkinson' disease, Curr. Opin. Cell Biol., 59, 73, 10.1016/j.ceb.2019.03.009 · DOI
  20. Burre, 2015, The synaptic function of alpha-synuclein, J. Parkinsons Dis., 5, 699, 10.3233/JPD-150642 · DOI
  21. Burre, 2014, alpha-Synuclein assembles into higher-order multimers upon membrane binding to promote SNARE complex formation, Proc. Natl. Acad. Sci. U. S. A., 111, E4274, 10.1073/pnas.1416598111 · DOI
  22. Burre, 2018, Cell biology and pathophysiology of alpha-synuclein, Cold Spring Harb. Perspect. Med., 8, 10.1101/cshperspect.a024091 · DOI
  23. Cao, 2017, Parkinson sac domain mutation in synaptojanin 1 impairs clathrin uncoating at synapses and triggers dystrophic changes in dopaminergic axons, Neuron, 93, 882, 10.1016/j.neuron.2017.01.019 · DOI
  24. Cataldi, 2018, Altered dopamine release and monoamine transporters in Vps35 p.D620N knock-in mice, NPJ Parkinsons Dis., 4, 27, 10.1038/s41531-018-0063-3 · DOI
  25. Chang, 2017, A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci, Nat. Genet., 49, 1511, 10.1038/ng.3955 · DOI · Paper page
  26. Chartier-Harlin, 2004, Alpha-synuclein locus duplication as a cause of familial Parkinson's disease, Lancet, 364, 1167, 10.1016/S0140-6736(04)17103-1 · DOI · Paper page
  27. Chen, 2013, GAK rs1564282 and DGKQ rs11248060 increase the risk for Parkinson's disease in a Chinese population, J. Clin. Neurosci., 20, 880, 10.1016/j.jocn.2012.07.011 · DOI
  28. Chen, 2015, Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population, Neurobiol. Aging, 36, 10.1016/j.neurobiolaging.2015.06.009 · DOI
  29. Chen, 2019, Parkinson's disease-linked D620N VPS35 knockin mice manifest tau neuropathology and dopaminergic neurodegeneration, Proc. Natl. Acad. Sci. U. S. A., 116, 5765, 10.1073/pnas.1814909116 · DOI
  30. Choy, 2014, Retromer mediates a discrete route of local membrane delivery to dendrites, Neuron, 82, 55, 10.1016/j.neuron.2014.02.018 · DOI · Paper page
  31. Christ, 2017, Cellular functions and molecular mechanisms of the ESCRT membrane-scission machinery, Trends Biochem. Sci., 42, 42, 10.1016/j.tibs.2016.08.016 · DOI
  32. Cremona, 1999, Essential role of phosphoinositide metabolism in synaptic vesicle recycling, Cell, 99, 179, 10.1016/S0092-8674(00)81649-9 · DOI
  33. Cuervo, 2004, Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy, Science, 305, 1292, 10.1126/science.1101738 · DOI · Paper page
  34. Cullen, 2011, Sorting nexins provide diversity for retromer-dependent trafficking events, Nat. Cell Biol., 14, 29, 10.1038/ncb2374 · DOI · Paper page
  35. Daher, 2015, Leucine-rich repeat kinase 2 (LRRK2) pharmacological inhibition abates alpha-synuclein gene-induced neurodegeneration, J. Biol. Chem., 290, 19433, 10.1074/jbc.M115.660001 · DOI
  36. Daniel, 2015, alpha-Synuclein-induced dopaminergic neurodegeneration in a rat model of Parkinson's disease occurs independent of ATP13A2 (PARK9), Neurobiol. Dis., 73, 229, 10.1016/j.nbd.2014.10.007 · DOI
  37. Deng, 2012, VPS35 mutation in Chinese Han patients with late-onset Parkinson's disease, Eur. J. Neurol., 19, e96, 10.1111/j.1468-1331.2012.03800.x · DOI
  38. Deng, 2013, The VPS35 gene and Parkinson's disease, Mov. Disord., 28, 569, 10.1002/mds.25430 · DOI
  39. Dhungel, 2015, Parkinson's disease genes VPS35 and EIF4G1 interact genetically and converge on alpha-synuclein, Neuron, 85, 76, 10.1016/j.neuron.2014.11.027 · DOI
  40. Dorsey, 2018, The parkinson pandemic-A call to action, JAMA Neurol., 75, 9, 10.1001/jamaneurol.2017.3299 · DOI
  41. Dorsey, 2018, The emerging evidence of the parkinson pandemic, J. Parkinsons Dis., 8, S3, 10.3233/JPD-181474 · DOI
  42. Drouet, 2014, Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms, Biomed. Res. Int., 2014, 289728, 10.1155/2014/289728 · DOI
  43. Dumitriu, 2011, Cyclin-G-associated kinase modifies alpha-synuclein expression levels and toxicity in Parkinson's disease: results from the GenePD Study, Hum. Mol. Genet., 20, 1478, 10.1093/hmg/ddr026 · DOI
  44. Dusonchet, 2011, A rat model of progressive nigral neurodegeneration induced by the Parkinson's disease-associated G2019S mutation in LRRK2, J. Neurosci., 31, 907, 10.1523/JNEUROSCI.5092-10.2011 · DOI
  45. Edvardson, 2012, A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism, PLoS One, 7, 10.1371/journal.pone.0036458 · DOI
  46. Eguchi, 2018, LRRK2 and its substrate Rab GTPases are sequentially targeted onto stressed lysosomes and maintain their homeostasis, Proc. Natl. Acad. Sci. U. S. A., 115, E9115, 10.1073/pnas.1812196115 · DOI
  47. Follett, 2016, Parkinson disease-linked Vps35 R524W mutation impairs the endosomal association of retromer and induces alpha-synuclein aggregation, J. Biol. Chem., 291, 18283, 10.1074/jbc.M115.703157 · DOI · Paper page
  48. Fuji, 2015, Effect of selective LRRK2 kinase inhibition on nonhuman primate lung, Sci. Transl. Med., 7, 10.1126/scitranslmed.aaa3634 · DOI
  49. Gambarte Tudela, 2019, Rab39a and Rab39b display different intracellular distribution and function in sphingolipids and phospholipids transport, Int. J. Mol. Sci., 20, E1688, 10.3390/ijms20071688 · DOI
  50. Gao, 2018, The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease, Mov. Disord., 33, 196, 10.1002/mds.27270 · DOI
  51. Gao, 2020, Clinical and neuropathological features associated with loss of RAB39B, Mov. Disord., 10.1002/mds.27951 · DOI
  52. 2019, Global, regional, and national burden of neurological disorders, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016, Lancet Neurol., 18, 459, 10.1016/S1474-4422(18)30499-X · DOI · Paper page
  53. Giannandrea, 2010, Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly, Am. J. Hum. Genet., 86, 185, 10.1016/j.ajhg.2010.01.011 · DOI
  54. Gillardon, 2009, Leucine-rich repeat kinase 2 phosphorylates brain tubulin-beta isoforms and modulates microtubule stability--a point of convergence in parkinsonian neurodegeneration?, J. Neurochem., 110, 1514, 10.1111/j.1471-4159.2009.06235.x · DOI
  55. Gomez, 2019, Membrane association but not identity is required for LRRK2 activation and phosphorylation of Rab GTPases, J. Cell Biol., 218, 4157, 10.1083/jcb.201902184 · DOI · Paper page
  56. Gomez-Suaga, 2014, LRRK2 delays degradative receptor trafficking by impeding late endosomal budding through decreasing Rab7 activity, Hum. Mol. Genet., 23, 6779, 10.1093/hmg/ddu395 · DOI · Paper page
  57. Greggio, 2006, Kinase activity is required for the toxic effects of mutant LRRK2/dardarin, Neurobiol. Dis., 23, 329, 10.1016/j.nbd.2006.04.001 · DOI · Paper page
  58. Healy, 2008, Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study, Lancet Neurol., 7, 583, 10.1016/S1474-4422(08)70117-0 · DOI · Paper page
  59. Henderson, 2019, LRRK2 inhibition does not impart protection from alpha-synuclein pathology and neuron death in non-transgenic mice, Acta Neuropathol. Commun., 7, 28, 10.1186/s40478-019-0679-5 · DOI
  60. Herzig, 2011, LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice, Hum. Mol. Genet., 20, 4209, 10.1093/hmg/ddr348 · DOI
  61. Hierro, 2007, Functional architecture of the retromer cargo-recognition complex, Nature, 449, 1063, 10.1038/nature06216 · DOI · Paper page
  62. Hinkle, 2012, LRRK2 knockout mice have an intact dopaminergic system but display alterations in exploratory and motor co-ordination behaviors, Mol. Neurodegener., 7, 25, 10.1186/1750-1326-7-25 · DOI
  63. Hirst, 2008, Auxilin depletion causes self-assembly of clathrin into membraneless cages in vivo, Traffic, 9, 1354, 10.1111/j.1600-0854.2008.00764.x · DOI
  64. Ishizu, 2016, Impaired striatal dopamine release in homozygous Vps35 D620N knock-in mice, Hum. Mol. Genet., 25, 4507
  65. Islam, 2017, Mechanisms of LRRK2-dependent neurodegeneration: role of enzymatic activity and protein aggregation, Biochem. Soc. Trans., 45, 163, 10.1042/BST20160264 · DOI
  66. Islam, 2016, Human R1441C LRRK2 regulates the synaptic vesicle proteome and phosphoproteome in a Drosophila model of Parkinson's disease, Hum. Mol. Genet., 25, 5365
  67. Ito, 2016, Phos-tag analysis of Rab10 phosphorylation by Lrrk2: a powerful assay for assessing kinase function and inhibitors, Biochem. J., 473, 2671, 10.1042/BCJ20160557 · DOI · Paper page
  68. Jinn, 2019, Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease, Hum. Mol. Genet., 28, 3244, 10.1093/hmg/ddz136 · DOI
  69. Kelly, 2018, The G2019S mutation in LRRK2 imparts resiliency to kinase inhibition, Exp. Neurol., 309, 1, 10.1016/j.expneurol.2018.07.012 · DOI
  70. Kim, 2002, Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice, Proc. Natl. Acad. Sci. U. S. A., 99, 17143, 10.1073/pnas.222657399 · DOI · Paper page
  71. Kirola, 2016, Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism, Parkinsonism Relat. Disord., 31, 124, 10.1016/j.parkreldis.2016.07.014 · DOI
  72. Kluss, 2018, Detection of endogenous S1292 LRRK2 autophosphorylation in mouse tissue as a readout for kinase activity, NPJ Parkinsons Dis., 4, 13, 10.1038/s41531-018-0049-1 · DOI
  73. Koroglu, 2013, DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability, Parkinsonism Relat. Disord., 19, 320, 10.1016/j.parkreldis.2012.11.006 · DOI
  74. Kovtun, 2018, Structure of the membrane-assembled retromer coat determined by cryo-electron tomography, Nature, 561, 561, 10.1038/s41586-018-0526-z · DOI · Paper page
  75. Krebs, 2013, The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures, Hum. Mutat., 34, 1200, 10.1002/humu.22372 · DOI
  76. Krohn, 2020, Genetic, structural, and functional evidence link TMEM175 to synucleinopathies, Ann. Neurol., 87, 139, 10.1002/ana.25629 · DOI
  77. Kruger, 1998, Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease, Nat. Genet., 18, 106, 10.1038/ng0298-106 · DOI · Paper page
  78. Krumova, 2015, Chemical genetic approach identifies microtubule affinity-regulating kinase 1 as a leucine-rich repeat kinase 2 substrate, FASEB J., 29, 2980, 10.1096/fj.14-262329 · DOI
  79. Kumar, 2012, Frequency of the D620N mutation in VPS35 in Parkinson disease, Arch. Neurol., 69, 1360, 10.1001/archneurol.2011.3367 · DOI
  80. Kuwahara, 2016, LRRK2 and RAB7L1 coordinately regulate axonal morphology and lysosome integrity in diverse cellular contexts, Sci. Rep., 6, 29945, 10.1038/srep29945 · DOI · Paper page
  81. Lang, 1998, Parkinson's disease. First of two parts, N. Engl. J. Med., 339, 1044, 10.1056/NEJM199810083391506 · DOI
  82. Lang, 1998, Parkinson's disease. Second of two parts, N. Engl. J. Med., 339, 1130, 10.1056/NEJM199810153391607 · DOI
  83. Lara Ordonez, 2019, RAB8, RAB10 and RILPL1 contribute to both LRRK2 kinase-mediated centrosomal cohesion and ciliogenesis deficits, Hum. Mol. Genet., 28, 3552, 10.1093/hmg/ddz201 · DOI · Paper page
  84. Lee, 2008, Essential role of cyclin-G-associated kinase (Auxilin-2) in developing and mature mice, Mol. Biol. Cell, 19, 2766, 10.1091/mbc.e07-11-1115 · DOI
  85. Lee, 2010, Inhibitors of leucine-rich repeat kinase-2 protect against models of Parkinson's disease, Nat. Med., 16, 998, 10.1038/nm.2199 · DOI · Paper page
  86. Lesage, 2013, G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome, Ann. Neurol., 73, 459, 10.1002/ana.23894 · DOI
  87. Lesage, 2015, Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease, Neurol. Genet., 1, 10.1212/NXG.0000000000000009 · DOI
  88. Li, 2019, Full recovery of the Alzheimer's disease phenotype by gain of function of vacuolar protein sorting 35, Mol. Psychiatry
  89. Li, 2020, A pharmacological chaperone improves memory by reducing Abeta and tau neuropathology in a mouse model with plaques and tangles, Mol. Neurodegener., 15, 1, 10.1186/s13024-019-0350-4 · DOI · Paper page
  90. Linhart, 2014, Vacuolar protein sorting 35 (Vps35) rescues locomotor deficits and shortened lifespan in Drosophila expressing a Parkinson's disease mutant of Leucine-Rich Repeat Kinase 2 (LRRK2), Mol. Neurodegener., 9, 23, 10.1186/1750-1326-9-23 · DOI
  91. Lis, 2018, Development of phospho-specific Rab protein antibodies to monitor in vivo activity of the LRRK2 Parkinson's disease kinase, Biochem. J., 475, 1, 10.1042/BCJ20170802 · DOI · Paper page
  92. Liu, 2018, LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network, Hum. Mol. Genet., 27, 385, 10.1093/hmg/ddx410 · DOI · Paper page
  93. Ma, 2019, Prion-like mechanisms in Parkinson's disease, Front. Neurosci., 13, 552, 10.3389/fnins.2019.00552 · DOI
  94. 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
  95. Marras, 2018, Prevalence of Parkinson's disease across North America, NPJ Parkinsons Dis., 4, 21, 10.1038/s41531-018-0058-0 · DOI
  96. Martin, 2014, Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease, Cell, 157, 472, 10.1016/j.cell.2014.01.064 · DOI · Paper page
  97. Mata, 2015, The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease, Mol. Neurodegener., 10, 50, 10.1186/s13024-015-0045-4 · DOI
  98. Matta, 2012, LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis, Neuron, 75, 1008, 10.1016/j.neuron.2012.08.022 · DOI · Paper page
  99. McFarthing, 2019, Clinical trial highlights: targetting alpha-synuclein, J. Parkinsons Dis., 9, 5, 10.3233/JPD-189004 · DOI
  100. McGough, 2014, Retromer binding to FAM21 and the WASH complex is perturbed by the Parkinson disease-linked VPS35(D620N) mutation, Curr. Biol., 24, 1670, 10.1016/j.cub.2014.06.024 · DOI · Paper page
  101. McGrath, 2019, LRRK2 binds to the Rab32 subfamily in a GTP-dependent manner via its armadillo domain, Small GTPases, 1
  102. Mecozzi, 2014, Pharmacological chaperones stabilize retromer to limit APP processing, Nat. Chem. Biol., 10, 443, 10.1038/nchembio.1508 · DOI · Paper page
  103. Meissner, 2011, Priorities in Parkinson's disease research, Nat. Rev. Drug Discov., 10, 377, 10.1038/nrd3430 · DOI
  104. Mir, 2018, The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human, Biochem. J., 475, 1861, 10.1042/BCJ20180248 · DOI · Paper page
  105. Miura, 2014, VPS35 dysfunction impairs lysosomal degradation of alpha-synuclein and exacerbates neurotoxicity in a Drosophila model of Parkinson's disease, Neurobiol. Dis., 71, 1, 10.1016/j.nbd.2014.07.014 · DOI
  106. Moore, 2005, Molecular pathophysiology of Parkinson's disease, Annu. Rev. Neurosci., 28, 57, 10.1146/annurev.neuro.28.061604.135718 · DOI
  107. Munsie, 2015, Retromer-dependent neurotransmitter receptor trafficking to synapses is altered by the Parkinson's disease VPS35 mutation p.D620N, Hum. Mol. Genet., 24, 1691, 10.1093/hmg/ddu582 · DOI · Paper page
  108. Nalls, 2019, Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies, Lancet Neurol., 18, 1091, 10.1016/S1474-4422(19)30320-5 · DOI · Paper page
  109. Nemani, 2010, Increased expression of alpha-synuclein reduces neurotransmitter release by inhibiting synaptic vesicle reclustering after endocytosis, Neuron, 65, 66, 10.1016/j.neuron.2009.12.023 · DOI
  110. Ness, 2013, Leucine-rich repeat kinase 2 (LRRK2)-deficient rats exhibit renal tubule injury and perturbations in metabolic and immunological homeostasis, PLoS One, 8, 10.1371/journal.pone.0066164 · DOI
  111. Nguyen, 2018, LRRK2 phosphorylation of auxilin mediates synaptic defects in dopaminergic neurons from patients with Parkinson's disease, Proc. Natl. Acad. Sci. U. S. A., 115, 5576, 10.1073/pnas.1717590115 · DOI
  112. Nguyen, 2017, Understanding the Gtpase activity of LRRK2: regulation, function, and neurotoxicity, Adv. Neurobiol., 14, 71, 10.1007/978-3-319-49969-7_4 · DOI
  113. Olgiati, 2014, PARK20 caused by SYNJ1 homozygous Arg258Gln mutation in a new Italian family, Neurogenetics, 15, 183, 10.1007/s10048-014-0406-0 · DOI
  114. Olgiati, 2016, DNAJC6 mutations associated with early-onset Parkinson's disease, Ann. Neurol., 79, 244, 10.1002/ana.24553 · DOI
  115. Orenstein, 2013, Interplay of LRRK2 with chaperone-mediated autophagy, Nat. Neurosci., 16, 394, 10.1038/nn.3350 · DOI · Paper page
  116. Paisan-Ruiz, 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
  117. Paisan-Ruiz, 2013, LRRK2: cause, risk, and mechanism, J. Parkinsons Dis., 3, 85, 10.3233/JPD-130192 · DOI
  118. Pan, 2017, Parkinson's disease-associated LRRK2 hyperactive kinase mutant disrupts synaptic vesicle trafficking in ventral midbrain neurons, J. Neurosci., 37, 11366, 10.1523/JNEUROSCI.0964-17.2017 · DOI · Paper page
  119. Pellegrini, 2018, Proteomic analysis reveals co-ordinated alterations in protein synthesis and degradation pathways in LRRK2 knockout mice, Hum. Mol. Genet., 27, 3257, 10.1093/hmg/ddy232 · DOI
  120. Polymeropoulos, 1997, Mutation in the alpha-synuclein gene identified in families with Parkinson's disease, Science, 276, 2045, 10.1126/science.276.5321.2045 · DOI · Paper page
  121. Purlyte, 2018, Rab29 activation of the Parkinson's disease-associated LRRK2 kinase, EMBO J., 37, 1, 10.15252/embj.201798099 · DOI · Paper page
  122. Quadri, 2013, Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism, Hum. Mutat., 34, 1208, 10.1002/humu.22373 · DOI
  123. Qureshi, 2019, Retromer repletion with AAV9-VPS35 restores endosomal function in the mouse hippocampus, bioRxiv, 618496
  124. Roosen, 2019, Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse, bioRxiv
  125. 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
  126. Seaman, 2004, Cargo-selective endosomal sorting for retrieval to the Golgi requires retromer, J. Cell Biol., 165, 111, 10.1083/jcb.200312034 · DOI · Paper page
  127. Seaman, 2012, The retromer complex—endosomal protein recycling and beyond, J. Cell Sci., 125, 4693
  128. Seaman, 2014, Analysis of the Retromer complex-WASH complex interaction illuminates new avenues to explore in Parkinson disease, Commun. Integr. Biol., 7, 10.4161/cib.29483 · DOI
  129. Seaman, 2013, Retromer-mediated endosomal protein sorting: all WASHed up!, Trends Cell Biol., 23, 522, 10.1016/j.tcb.2013.04.010 · DOI
  130. Seaman, 2018, Inhibition of TBC1D5 activates Rab7a and can enhance the function of the retromer cargo-selective complex, J. Cell Sci., 131, 10.1242/jcs.217398 · DOI · Paper page
  131. Shahmoradian, 2019, Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes, Nat. Neurosci., 22, 1099, 10.1038/s41593-019-0423-2 · DOI
  132. Sharma, 2012, A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants, J. Med. Genet., 49, 721, 10.1136/jmedgenet-2012-101155 · DOI
  133. Sheng, 2012, Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations, Sci. Transl. Med., 4, 10.1126/scitranslmed.3004485 · DOI
  134. Simon-Sanchez, 2009, Genome-wide association study reveals genetic risk underlying Parkinson's disease, Nat. Genet., 41, 1308, 10.1038/ng.487 · DOI · Paper page
  135. Singleton, 2003, alpha-Synuclein locus triplication causes Parkinson's disease, Science, 302, 841, 10.1126/science.1090278 · DOI · Paper page
  136. Small, 2015, Retromer in Alzheimer disease, Parkinson disease and other neurological disorders, Nat. Rev. Neurosci., 16, 126, 10.1038/nrn3896 · DOI · Paper page
  137. Small, 2005, Model-guided microarray implicates the retromer complex in Alzheimer's disease, Ann. Neurol., 58, 909, 10.1002/ana.20667 · DOI · Paper page
  138. Smith, 2006, Kinase activity of mutant LRRK2 mediates neuronal toxicity, Nat. Neurosci., 9, 1231, 10.1038/nn1776 · DOI · Paper page
  139. Song, 2017, Auxilin underlies progressive locomotor deficits and dopaminergic neuron loss in a drosophila model of Parkinson's disease, Cell Rep., 18, 1132, 10.1016/j.celrep.2017.01.005 · DOI
  140. Spillantini, 1997, Alpha-synuclein in Lewy bodies, Nature, 388, 839, 10.1038/42166 · DOI · Paper page
  141. Spillantini, 1998, alpha-Synuclein in filamentous inclusions of Lewy bodies from Parkinson's disease and dementia with lewy bodies, Proc. Natl. Acad. Sci. U. S. A., 95, 6469, 10.1073/pnas.95.11.6469 · DOI · Paper page
  142. Stafa, 2012, GTPase activity and neuronal toxicity of Parkinson's disease-associated LRRK2 is regulated by ArfGAP1, PLoS Genet., 8, 10.1371/journal.pgen.1002526 · DOI · Paper page
  143. Stafa, 2014, Functional interaction of Parkinson's disease-associated LRRK2 with members of the dynamin GTPase superfamily, Hum. Mol. Genet., 23, 2055, 10.1093/hmg/ddt600 · DOI
  144. Steger, 2016, Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases, Elife, 5, 10.7554/eLife.12813 · DOI · Paper page
  145. Steger, 2017, Systematic proteomic analysis of LRRK2-mediated Rab GTPase phosphorylation establishes a connection to ciliogenesis, Elife, 6, 10.7554/eLife.31012 · DOI · Paper page
  146. Steinberg, 2013, A global analysis of SNX27-retromer assembly and cargo specificity reveals a function in glucose and metal ion transport, Nat. Cell Biol., 15, 461, 10.1038/ncb2721 · DOI · Paper page
  147. Struhal, 2014, VPS35 Parkinson's disease phenotype resembles the sporadic disease, J. Neural Transm. (Vienna), 121, 755, 10.1007/s00702-014-1179-1 · DOI
  148. Tang, 2015, VPS35 deficiency or mutation causes dopaminergic neuronal loss by impairing mitochondrial fusion and function, Cell Rep., 12, 1631, 10.1016/j.celrep.2015.08.001 · DOI
  149. Tang, 2020, Coupling of terminal differentiation deficit with neurodegenerative pathology in Vps35-deficient pyramidal neurons, Cell Death Differ., 10.1038/s41418-019-0487-2 · DOI · Paper page
  150. Temkin, 2011, SNX27 mediates retromer tubule entry and endosome-to-plasma membrane trafficking of signalling receptors, Nat. Cell Biol., 13, 715, 10.1038/ncb2252 · DOI · Paper page
  151. Tong, 2010, Loss of leucine-rich repeat kinase 2 causes impairment of protein degradation pathways, accumulation of alpha-synuclein, and apoptotic cell death in aged mice, Proc. Natl. Acad. Sci. U. S. A., 107, 9879, 10.1073/pnas.1004676107 · DOI
  152. Tong, 2012, Loss of leucine-rich repeat kinase 2 causes age-dependent bi-phasic alterations of the autophagy pathway, Mol. Neurodegener., 7, 2, 10.1186/1750-1326-7-2 · DOI
  153. Trempe, 2009, SH3 domains from a subset of BAR proteins define a Ubl-binding domain and implicate parkin in synaptic ubiquitination, Mol. Cell, 36, 1034, 10.1016/j.molcel.2009.11.021 · DOI
  154. Tsika, 2014, Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration, Hum. Mol. Genet., 23, 4621, 10.1093/hmg/ddu178 · DOI · Paper page
  155. Tsika, 2015, Adenoviral-mediated expression of G2019S LRRK2 induces striatal pathology in a kinase-dependent manner in a rat model of Parkinson's disease, Neurobiol. Dis., 77, 49, 10.1016/j.nbd.2015.02.019 · DOI
  156. Tucci, 2010, Genetic variability at the PARK16 locus, Eur. J. Hum. Genet., 18, 1356, 10.1038/ejhg.2010.125 · DOI · Paper page
  157. Vanhauwaert, 2017, The SAC1 domain in synaptojanin is required for autophagosome maturation at presynaptic terminals, EMBO J., 36, 1392, 10.15252/embj.201695773 · DOI
  158. Vilarino-Guell, 2011, VPS35 mutations in Parkinson disease, Am. J. Hum. Genet., 89, 162, 10.1016/j.ajhg.2011.06.001 · DOI · Paper page
  159. Volpicelli-Daley, 2016, G2019S-LRRK2 expression augments alpha-synuclein sequestration into inclusions in neurons, J. Neurosci., 36, 7415, 10.1523/JNEUROSCI.3642-15.2016 · DOI
  160. Wallings, 2019, LRRK2 interacts with the vacuolar-type H+-ATPase pump a1 subunit to regulate lysosomal function, Hum. Mol. Genet., 28, 2696, 10.1093/hmg/ddz088 · DOI
  161. Wang, 2014, A role of Rab29 in the integrity of the trans-Golgi network and retrograde trafficking of mannose-6-phosphate receptor, PLoS One, 9
  162. Waschbusch, 2014, LRRK2 transport is regulated by its novel interacting partner Rab32, PLoS One, 9, 10.1371/journal.pone.0111632 · DOI
  163. Waschbusch, 2019, Rab32 interacts with SNX6 and affects retromer-dependent Golgi trafficking, PLoS One, 14, 10.1371/journal.pone.0208889 · DOI
  164. West, 2005, Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity, Proc. Natl. Acad. Sci. U. S. A., 102, 16842, 10.1073/pnas.0507360102 · DOI · Paper page
  165. West, 2007, Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity, Hum. Mol. Genet., 16, 223, 10.1093/hmg/ddl471 · DOI · Paper page
  166. Wider, 2008, Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family, Parkinsonism Relat. Disord., 14, 465, 10.1016/j.parkreldis.2007.11.013 · DOI
  167. Williams, 2017, VPS35, the retromer complex and Parkinson's disease, J. Parkinsons Dis., 7, 219, 10.3233/JPD-161020 · DOI
  168. Williams, 2018, Parkin mediates the ubiquitination of VPS35 and modulates retromer-dependent endosomal sorting, Hum. Mol. Genet., 27, 3189, 10.1093/hmg/ddy224 · DOI
  169. Wilson, 2014, Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with alpha-synuclein pathology, Am. J. Hum. Genet., 95, 729, 10.1016/j.ajhg.2014.10.015 · DOI
  170. Xilouri, 2013, Boosting chaperone-mediated autophagy in vivo mitigates alpha-synuclein-induced neurodegeneration, Brain, 136, 2130, 10.1093/brain/awt131 · DOI
  171. Xiong, 2010, GTPase activity plays a key role in the pathobiology of LRRK2, PLoS Genet., 6, 10.1371/journal.pgen.1000902 · DOI
  172. Xiong, 2012, ArfGAP1 is a GTPase activating protein for LRRK2: reciprocal regulation of ArfGAP1 by LRRK2, J. Neurosci., 32, 3877, 10.1523/JNEUROSCI.4566-11.2012 · DOI
  173. Yim, 2010, Endocytosis and clathrin-uncoating defects at synapses of auxilin knockout mice, Proc. Natl. Acad. Sci. U. S. A., 107, 4412, 10.1073/pnas.1000738107 · DOI
  174. Yu, 2015, Interaction between SNCA, LRRK2 and GAK increases susceptibility to Parkinson's disease in a Chinese population, eNeurologicalSci., 1, 3, 10.1016/j.ensci.2015.08.001 · DOI
  175. Zarranz, 2004, The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia, Ann. Neurol., 55, 164, 10.1002/ana.10795 · DOI · Paper page
  176. Zavodszky, 2014, Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy, Nat. Commun., 5, 3828, 10.1038/ncomms4828 · DOI · Paper page
  177. Zhang, 2018, A comprehensive analysis of the association between SNCA polymorphisms and the risk of Parkinson's disease, Front. Mol. Neurosci., 11, 391, 10.3389/fnmol.2018.00391 · DOI
  178. Zhao, 2018, Reduced LRRK2 in association with retromer dysfunction in post-mortem brain tissue from LRRK2 mutation carriers, Brain, 141, 486, 10.1093/brain/awx344 · DOI · Paper page
  179. Zimprich, 2004, Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology, Neuron, 44, 601, 10.1016/j.neuron.2004.11.005 · DOI
  180. 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

Sorted by citations

Metadata

Venue
Progress in Brain Research
Publisher
Elsevier
Published
2020
Pages
271-306
ISSN
0079-6123
DOI
10.1016/bs.pbr.2020.02.001
PMC
PMC7206894
Cited by
25
References
18
Language
en
Licence
Funders
  • Van Andel Research Institute
  • National Institutes of Health (R01 NS091719, R21 AG058241, R01 NS105432)

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