{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T07:06:02Z","timestamp":1782975962305,"version":"3.54.5"},"reference-count":140,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,22]],"date-time":"2022-01-22T00:00:00Z","timestamp":1642809600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100015539","name":"Australian Government","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100015539","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["NSFC 82071417"],"award-info":[{"award-number":["NSFC 82071417"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003921","name":"Australian Government Department of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003921","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Genes & Diseases"],"published-print":{"date-parts":[[2023,5]]},"DOI":"10.1016\/j.gendis.2021.12.015","type":"journal-article","created":{"date-parts":[[2022,2,5]],"date-time":"2022-02-05T10:56:50Z","timestamp":1644058610000},"page":"786-798","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"title":["Parkinson's disease: From genetics to molecular dysfunction and targeted therapeutic approaches"],"prefix":"10.1016","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6051-2241","authenticated-orcid":false,"given":"Yue","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun","family":"Wei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-2353","authenticated-orcid":false,"given":"Antony","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2285-5117","authenticated-orcid":false,"given":"Margaret J.","family":"Morris","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"8","key":"10.1016\/j.gendis.2021.12.015_bib1","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1007\/s00702-017-1686-y","article-title":"Epidemiology of Parkinson's disease","volume":"124","author":"Tysnes","year":"2017","journal-title":"J Neural Transm (Vienna)"},{"key":"10.1016\/j.gendis.2021.12.015_bib2","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1038\/s41531-020-0117-1","article-title":"Current and projected future economic burden of Parkinson's disease in the U.S","volume":"6","author":"Yang","year":"2020","journal-title":"NPJ Parkinsons Dis"},{"key":"10.1016\/j.gendis.2021.12.015_bib3","doi-asserted-by":"crossref","first-page":"17013","DOI":"10.1038\/nrdp.2017.13","article-title":"Parkinson disease","volume":"3","author":"Poewe","year":"2017","journal-title":"Nat Rev Dis Prim"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib4","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1038\/nrneurol.2015.249","article-title":"Parkinson disease in 2015:evolving basic, pathological and clinical concepts in PD","volume":"12","author":"Kalia","year":"2016","journal-title":"Nat Rev Neurol"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib5","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/nrg1831","article-title":"Genetics of Parkinson disease: paradigm shifts and future prospects","volume":"7","author":"Farrer","year":"2006","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.gendis.2021.12.015_bib6","doi-asserted-by":"crossref","DOI":"10.1177\/1179069518761360","article-title":"The convergence of dopamine and \u03b1-synuclein: implications for Parkinson's disease","volume":"12","author":"Mor","year":"2018","journal-title":"J Exp Neurosci"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib7","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1002\/ana.23746","article-title":"\u0391-Synuclein oligomers and clinical implications for Parkinson disease","volume":"73","author":"Kalia","year":"2013","journal-title":"Ann Neurol"},{"key":"10.1016\/j.gendis.2021.12.015_bib8","article-title":"Non-motor symptoms of Parkinson\u2019s disease: the neurobiology of early psychiatric and cognitive dysfunction","volume":"10738584211011979","author":"Hussein","year":"2021","journal-title":"Neuroscientist"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib9","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/S1474-4422(06)70373-8","article-title":"Non-motor symptoms of Parkinson's disease: diagnosis and management","volume":"5","author":"Chaudhuri","year":"2006","journal-title":"Lancet Neurol"},{"issue":"12","key":"10.1016\/j.gendis.2021.12.015_bib10","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.1016\/S1474-4422(16)30230-7","article-title":"The epidemiology of Parkinson's disease: risk factors and prevention","volume":"15","author":"Ascherio","year":"2016","journal-title":"Lancet Neurol"},{"issue":"R1","key":"10.1016\/j.gendis.2021.12.015_bib11","doi-asserted-by":"crossref","first-page":"R48","DOI":"10.1093\/hmg\/ddp012","article-title":"Parkinson's disease: from monogenic forms to genetic susceptibility factors","volume":"18","author":"Lesage","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"5321","key":"10.1016\/j.gendis.2021.12.015_bib12","doi-asserted-by":"crossref","first-page":"2045","DOI":"10.1126\/science.276.5321.2045","article-title":"Mutation in the alpha-synuclein gene identified in families with Parkinson's disease","volume":"276","author":"Polymeropoulos","year":"1997","journal-title":"Science"},{"issue":"6645","key":"10.1016\/j.gendis.2021.12.015_bib13","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1038\/42166","article-title":"Alpha-synuclein in lewy bodies","volume":"388","author":"Spillantini","year":"1997","journal-title":"Nature"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib14","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/ana.20731","article-title":"Lrrk2 and Lewy body disease","volume":"59","author":"Ross","year":"2006","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib15","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1002\/ana.20791","article-title":"Biochemical and pathological characterization of Lrrk2","volume":"59","author":"Giasson","year":"2006","journal-title":"Ann Neurol"},{"issue":"8","key":"10.1016\/j.gendis.2021.12.015_bib16","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1016\/S1474-4422(15)00006-X","article-title":"Targeting \u03b1-synuclein for treatment of Parkinson's disease: mechanistic and therapeutic considerations","volume":"14","author":"Dehay","year":"2015","journal-title":"Lancet Neurol"},{"issue":"5","key":"10.1016\/j.gendis.2021.12.015_bib17","doi-asserted-by":"crossref","first-page":"1089","DOI":"10.1016\/S0022-2836(02)00735-0","article-title":"\u03b1-Synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils","volume":"322","author":"Lashuel","year":"2002","journal-title":"J Mol Biol"},{"issue":"5646","key":"10.1016\/j.gendis.2021.12.015_bib18","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1126\/science.1090278","article-title":"\u03b1-Synuclein locus triplication causes Parkinson's disease","volume":"302","author":"Singleton","year":"2003","journal-title":"Science"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib19","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1002\/ana.21380","article-title":"Genomic investigation of alpha-synuclein multiplication and Parkinsonism","volume":"63","author":"Ross","year":"2008","journal-title":"Ann Neurol"},{"issue":"11","key":"10.1016\/j.gendis.2021.12.015_bib20","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1001\/archneurol.2010.279","article-title":"SNCA variant associated with Parkinson disease and plasma alpha-synuclein level","volume":"67","author":"Mata","year":"2010","journal-title":"Arch Neurol"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib21","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.neuron.2011.08.033","article-title":"Exogenous \u03b1-synuclein fibrils induce Lewy body pathology leading to synaptic dysfunction and neuron death","volume":"72","author":"Volpicelli-Daley","year":"2011","journal-title":"Neuron"},{"issue":"6109","key":"10.1016\/j.gendis.2021.12.015_bib22","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1126\/science.1227157","article-title":"Pathological \u03b1-synuclein transmission initiates Parkinson-like neurodegeneration in nontransgenic mice","volume":"338","author":"Luk","year":"2012","journal-title":"Science"},{"issue":"14","key":"10.1016\/j.gendis.2021.12.015_bib23","doi-asserted-by":"crossref","first-page":"9089","DOI":"10.1074\/jbc.M710012200","article-title":"Mitochondrial import and accumulation of alpha-synuclein impair complex I in human dopaminergic neuronal cultures and Parkinson disease brain","volume":"283","author":"Devi","year":"2008","journal-title":"J Biol Chem"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib24","doi-asserted-by":"crossref","first-page":"187","DOI":"10.1016\/j.neulet.2009.02.056","article-title":"Alpha-Synuclein is differentially expressed in mitochondria from different rat brain regions and dose-dependently down-regulates complex I activity","volume":"454","author":"Liu","year":"2009","journal-title":"Neurosci Lett"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib25","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1111\/j.1460-9568.2011.07660.x","article-title":"Hyperphosphorylated Tau in an \u03b1-synuclein-overexpressing transgenic model of Parkinson's disease","volume":"33","author":"Haggerty","year":"2011","journal-title":"Eur J Neurosci"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib26","doi-asserted-by":"crossref","first-page":"2112","DOI":"10.1074\/jbc.M102981200","article-title":"Tubulin seeds alpha-synuclein fibril formation","volume":"277","author":"Alim","year":"2002","journal-title":"J Biol Chem"},{"issue":"5619","key":"10.1016\/j.gendis.2021.12.015_bib27","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1126\/science.1082324","article-title":"Initiation and synergistic fibrillization of tau and alpha-synuclein","volume":"300","author":"Giasson","year":"2003","journal-title":"Science"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib28","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1002\/humu.20668","article-title":"Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls","volume":"29","author":"Pais\u00e1n-Ru\u00edz","year":"2008","journal-title":"Hum Mutat"},{"issue":"21","key":"10.1016\/j.gendis.2021.12.015_bib29","doi-asserted-by":"crossref","first-page":"4022","DOI":"10.1093\/hmg\/ddp346","article-title":"LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model","volume":"18","author":"Alegre-Abarrategui","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib30","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1093\/hmg\/ddr573","article-title":"Roles of the Drosophila LRRK2 homolog in Rab7-dependent lysosomal positioning","volume":"21","author":"Dodson","year":"2011","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gendis.2021.12.015_bib31","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.12813","article-title":"Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases","volume":"5","author":"Steger","year":"2016","journal-title":"Elife"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib32","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.parkreldis.2006.12.001","article-title":"Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia","volume":"13","author":"Farrer","year":"2007","journal-title":"Park Relat Disord"},{"issue":"7","key":"10.1016\/j.gendis.2021.12.015_bib33","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1016\/S1474-4422(08)70117-0","article-title":"Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study","volume":"7","author":"Healy","year":"2008","journal-title":"Lancet Neurol"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib34","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1016\/j.jmb.2011.07.033","article-title":"Autophosphorylation in the leucine-rich repeat kinase 2 (LRRK2) GTPase domain modifies kinase and GTP-binding activities","volume":"412","author":"Webber","year":"2011","journal-title":"J Mol Biol"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib35","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1016\/j.neuron.2012.08.022","article-title":"LRRK2 controls an EndoA phosphorylation cycle in synaptic endocytosis","volume":"75","author":"Matta","year":"2012","journal-title":"Neuron"},{"issue":"18","key":"10.1016\/j.gendis.2021.12.015_bib36","doi-asserted-by":"crossref","first-page":"2432","DOI":"10.1038\/emboj.2008.163","article-title":"Phosphorylation of 4E-BP by LRRK2 affects the maintenance of dopaminergic neurons in Drosophila","volume":"27","author":"Imai","year":"2008","journal-title":"EMBO J"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib37","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/j.neuron.2017.01.019","article-title":"Parkinson sac domain mutation in synaptojanin 1 impairs clathrin uncoating at synapses and triggers dystrophic changes in dopaminergic axons","volume":"93","author":"Cao","year":"2017","journal-title":"Neuron"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib38","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.cell.2014.01.064","article-title":"Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease","volume":"157","author":"Martin","year":"2014","journal-title":"Cell"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib39","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1016\/j.stem.2020.08.002","article-title":"Defects in mRNA translation in LRRK2-mutant hiPSC-derived dopaminergic neurons lead to dysregulated calcium homeostasis","volume":"27","author":"Kim","year":"2020","journal-title":"Cell Stem Cell"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib40","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/s00401-008-0446-3","article-title":"LRRK2 and parkin immunoreactivity in multiple system atrophy inclusions","volume":"116","author":"Huang","year":"2008","journal-title":"Acta Neuropathol"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib41","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1007\/s00109-012-0984-y","article-title":"LRRK2 interactions with \u03b1-synuclein in Parkinson's disease brains and in cell models","volume":"91","author":"Guerreiro","year":"2013","journal-title":"J Mol Med (Berl)"},{"issue":"28","key":"10.1016\/j.gendis.2021.12.015_bib42","doi-asserted-by":"crossref","first-page":"7415","DOI":"10.1523\/JNEUROSCI.3642-15.2016","article-title":"G2019S-LRRK2 expression augments \u03b1-synuclein sequestration into inclusions in neurons","volume":"36","author":"Volpicelli-Daley","year":"2016","journal-title":"J Neurosci"},{"key":"10.1016\/j.gendis.2021.12.015_bib43","doi-asserted-by":"crossref","first-page":"577","DOI":"10.3389\/fnins.2020.00577","article-title":"LRRK2 and \u03b1-synuclein: distinct or synergistic players in Parkinson's disease?","volume":"14","author":"O'Hara","year":"2020","journal-title":"Front Neurosci"},{"issue":"10","key":"10.1016\/j.gendis.2021.12.015_bib44","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/j.tips.2011.06.001","article-title":"Genetic mutations and functions of PINK1","volume":"32","author":"Kawajiri","year":"2011","journal-title":"Trends Pharmacol Sci"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib45","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1212\/01.WNL.0000113022.51739.88","article-title":"DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease","volume":"62","author":"Hedrich","year":"2004","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib46","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.10270","article-title":"Role of SCA2 mutations in early- and late-onset dopa-responsive Parkinsonism","volume":"52","author":"Kock","year":"2002","journal-title":"Ann Neurol"},{"issue":"6676","key":"10.1016\/j.gendis.2021.12.015_bib47","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1038\/33416","article-title":"Mutations in the parkin gene cause autosomal recessive juvenile Parkinsonism","volume":"392","author":"Kitada","year":"1998","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.gendis.2021.12.015_bib48","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1212\/01.wnl.0000323812.40708.1f","article-title":"PINK1 mutations and Parkinsonism","volume":"71","author":"Ishihara-Paul","year":"2008","journal-title":"Neurology"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib49","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1001\/archneurol.2010.194","article-title":"Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study","volume":"67","author":"Alcalay","year":"2010","journal-title":"Arch Neurol"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib50","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/ana.1132","article-title":"Lewy bodies and Parkinsonism in families with parkin mutations","volume":"50","author":"Farrer","year":"2001","journal-title":"Ann Neurol"},{"issue":"Pt 4","key":"10.1016\/j.gendis.2021.12.015_bib51","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1093\/brain\/awq051","article-title":"PINK1-linked Parkinsonism is associated with Lewy body pathology","volume":"133","author":"Samaranch","year":"2010","journal-title":"Brain"},{"issue":"5528","key":"10.1016\/j.gendis.2021.12.015_bib52","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1126\/science.1060627","article-title":"Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease","volume":"293","author":"Shimura","year":"2001","journal-title":"Science"},{"issue":"14","key":"10.1016\/j.gendis.2021.12.015_bib53","doi-asserted-by":"crossref","first-page":"3685","DOI":"10.1523\/JNEUROSCI.0414-06.2006","article-title":"Inclusion body formation and neurodegeneration are parkin independent in a mouse model of alpha-synucleinopathy","volume":"26","author":"von Coelln","year":"2006","journal-title":"J Neurosci"},{"issue":"11","key":"10.1016\/j.gendis.2021.12.015_bib54","doi-asserted-by":"crossref","first-page":"a011338","DOI":"10.1101\/cshperspect.a011338","article-title":"Mitochondrial quality control mediated by PINK1 and Parkin: links to Parkinsonism","volume":"4","author":"Narendra","year":"2012","journal-title":"Cold Spring Harbor Perspect Biol"},{"issue":"7","key":"10.1016\/j.gendis.2021.12.015_bib55","doi-asserted-by":"crossref","first-page":"712","DOI":"10.3390\/cells8070712","article-title":"Mitophagy in Parkinson's disease: from pathogenesis to treatment","volume":"8","author":"Liu","year":"2019","journal-title":"Cells"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib56","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.tins.2014.03.004","article-title":"Parkin and PINK1:much more than mitophagy","volume":"37","author":"Scarffe","year":"2014","journal-title":"Trends Neurosci"},{"issue":"Pt 4","key":"10.1016\/j.gendis.2021.12.015_bib57","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1242\/jcs.093849","article-title":"PINK1- and parkin-mediated mitophagy at a glance","volume":"125","author":"Jin","year":"2012","journal-title":"J Cell Sci"},{"issue":"12","key":"10.1016\/j.gendis.2021.12.015_bib58","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1038\/ng.487","article-title":"Genome-wide association study reveals genetic risk underlying Parkinson's disease","volume":"41","author":"Sim\u00f3n-S\u00e1nchez","year":"2009","journal-title":"Nat Genet"},{"issue":"12","key":"10.1016\/j.gendis.2021.12.015_bib59","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1038\/ng.485","article-title":"Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease","volume":"41","author":"Satake","year":"2009","journal-title":"Nat Genet"},{"issue":"9766","key":"10.1016\/j.gendis.2021.12.015_bib60","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/S0140-6736(10)62345-8","article-title":"Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies","volume":"377","year":"2011","journal-title":"Lancet"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib61","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1038\/ng.3043","article-title":"Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease","volume":"46","author":"Nalls","year":"2014","journal-title":"Nat Genet"},{"issue":"10","key":"10.1016\/j.gendis.2021.12.015_bib62","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1038\/ng.3955","article-title":"A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci","volume":"49","author":"Chang","year":"2017","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib63","first-page":"226","article-title":"Genome-wide association study of Parkinson's disease in East Asians","volume":"26","author":"Foo","year":"2017","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.gendis.2021.12.015_bib64","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.parkreldis.2015.12.018","article-title":"Variants in the SNCA gene associate with motor progression while variants in the MAPT gene associate with the severity of Parkinson's disease","volume":"24","author":"Wang","year":"2016","journal-title":"Park Relat Disord"},{"issue":"12","key":"10.1016\/j.gendis.2021.12.015_bib65","doi-asserted-by":"crossref","first-page":"1091","DOI":"10.1016\/S1474-4422(19)30320-5","article-title":"Identification of novel risk loci, causal insights, and heritable risk for Parkinson's disease: a meta-analysis of genome-wide association studies","volume":"18","author":"Nalls","year":"2019","journal-title":"Lancet Neurol"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib66","doi-asserted-by":"crossref","first-page":"746","DOI":"10.1001\/jamaneurol.2020.0428","article-title":"Identification of risk loci for Parkinson disease in asians and comparison of risk between asians and Europeans: a genome-wide association study","volume":"77","author":"Foo","year":"2020","journal-title":"JAMA Neurol"},{"key":"10.1016\/j.gendis.2021.12.015_bib67","doi-asserted-by":"crossref","first-page":"30509","DOI":"10.1038\/srep30509","article-title":"Enrichment of risk SNPs in regulatory regions implicate diverse tissues in Parkinson's disease etiology","volume":"6","author":"Coetzee","year":"2016","journal-title":"Sci Rep"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib68","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1093\/bioinformatics\/btu848","article-title":"PRSice: polygenic risk score software","volume":"31","author":"Euesden","year":"2015","journal-title":"Bioinformatics"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib69","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1001\/jamaneurol.2017.4206","article-title":"Association of polygenic risk score with cognitive decline and motor progression in Parkinson disease","volume":"75","author":"Paul","year":"2018","journal-title":"JAMA Neurol"},{"issue":"Pt 9","key":"10.1016\/j.gendis.2021.12.015_bib70","doi-asserted-by":"crossref","first-page":"2648","DOI":"10.1093\/brain\/awv179","article-title":"Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations","volume":"138","author":"Alcalay","year":"2015","journal-title":"Brain"},{"key":"10.1016\/j.gendis.2021.12.015_bib71","first-page":"135674","article-title":"SNCA gene, but not MAPT, influences onset age of Parkinson's disease in Chinese and australians","volume":"2015","author":"Huang","year":"2015","journal-title":"BioMed Res Int"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib72","doi-asserted-by":"crossref","first-page":"271","DOI":"10.3233\/JPD-2011-11027","article-title":"Interaction between \u03b1-synuclein and tau genotypes and the progression of Parkinson's disease","volume":"1","author":"Huang","year":"2011","journal-title":"J Parkinsons Dis"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib73","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1186\/s12883-017-0978-z","article-title":"Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels","volume":"17","author":"Ibanez","year":"2017","journal-title":"BMC Neurol"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib74","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/mds.28342","article-title":"Genome-wide association studies of cognitive and motor progression in Parkinson's disease","volume":"36","author":"Tan","year":"2021","journal-title":"Mov Disord"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib75","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/s41588-021-00847-6","article-title":"Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease","volume":"53","author":"Liu","year":"2021","journal-title":"Nat Genet"},{"issue":"suppl_1","key":"10.1016\/j.gendis.2021.12.015_bib76","doi-asserted-by":"crossref","first-page":"D258","DOI":"10.1093\/nar\/gkh036","article-title":"The Gene Ontology (GO) database and informatics resource","volume":"32","author":"Consortium","year":"2004","journal-title":"Nucleic Acids Res"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib77","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1007\/s10534-016-9942-4","article-title":"The neurotoxicity of iron, copper and cobalt in Parkinson's disease through ROS-mediated mechanisms","volume":"29","author":"Lan","year":"2016","journal-title":"Biometals"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib78","doi-asserted-by":"crossref","first-page":"194a","DOI":"10.1016\/j.bpj.2020.11.1336","article-title":"\u03b1Synuclein regulates mitochondrial calcium transport through the voltage dependent anion channel","volume":"120","author":"Rosencrans","year":"2021","journal-title":"Biophys J"},{"issue":"14","key":"10.1016\/j.gendis.2021.12.015_bib79","doi-asserted-by":"crossref","first-page":"3439","DOI":"10.3390\/ijms20143439","article-title":"Magnesium is a key player in neuronal maturation and neuropathology","volume":"20","author":"Yamanaka","year":"2019","journal-title":"Int J Mol Sci"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib80","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0169605","article-title":"Statistical approaches for gene selection, hub gene identification and module interaction in gene co-expression network analysis: an application to aluminum stress in soybean (Glycine max L.)","volume":"12","author":"Das","year":"2017","journal-title":"PLoS One"},{"issue":"16","key":"10.1016\/j.gendis.2021.12.015_bib81","doi-asserted-by":"crossref","first-page":"10422","DOI":"10.1074\/jbc.272.16.10422","article-title":"Cloning of a novel human diacylglycerol kinase (DGKtheta) containing three cysteine-rich domains, a proline-rich region, and a pleckstrin homology domain with an overlapping Ras-associating domain","volume":"272","author":"Houssa","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1016\/j.gendis.2021.12.015_bib82","doi-asserted-by":"crossref","first-page":"20","DOI":"10.3389\/fnagi.2017.00020","article-title":"Genetic determinants of Parkinson's disease: can they help to stratify the patients based on the underlying molecular defect?","volume":"9","author":"Reden\u0161ek","year":"2017","journal-title":"Front Aging Neurosci"},{"key":"10.1016\/j.gendis.2021.12.015_bib83","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/1744-9081-9-19","article-title":"P268S in NOD2 associates with susceptibility to Parkinson's disease in Chinese population","volume":"9","author":"Ma","year":"2013","journal-title":"Behav Brain Funct"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib84","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1007\/s10072-016-2782-8","article-title":"Serum glutathione peroxidase, xanthine oxidase, and superoxide dismutase activities and malondialdehyde levels in patients with Parkinson's disease","volume":"38","author":"G\u00f6k\u00e7e \u00c7okal","year":"2017","journal-title":"Neurol Sci"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib85","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1038\/s41421-021-00280-3","article-title":"Single-cell transcriptome and TCR profiling reveal activated and expanded T cell populations in Parkinson's disease","volume":"7","author":"Wang","year":"2021","journal-title":"Cell Discov"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib86","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s40618-020-01314-5","article-title":"Shedding light on thyroid hormone disorders and Parkinson disease pathology: mechanisms and risk factors","volume":"44","author":"Mohammadi","year":"2021","journal-title":"J Endocrinol Invest"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib87","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1007\/s00401-020-02181-3","article-title":"Large-scale pathway specific polygenic risk and transcriptomic community network analysis identifies novel functional pathways in Parkinson disease","volume":"140","author":"Bandres-Ciga","year":"2020","journal-title":"Acta Neuropathol"},{"issue":"21","key":"10.1016\/j.gendis.2021.12.015_bib88","doi-asserted-by":"crossref","first-page":"5576","DOI":"10.1073\/pnas.1717590115","article-title":"LRRK2 phosphorylation of auxilin mediates synaptic defects in dopaminergic neurons from patients with Parkinson's disease","volume":"115","author":"Nguyen","year":"2018","journal-title":"Proc Natl Acad Sci Unit States Am"},{"issue":"48","key":"10.1016\/j.gendis.2021.12.015_bib89","doi-asserted-by":"crossref","first-page":"12243","DOI":"10.1523\/JNEUROSCI.1473-16.2016","article-title":"Parkin deficiency reduces hippocampal glutamatergic neurotransmission by impairing AMPA receptor endocytosis","volume":"36","author":"Cortese","year":"2016","journal-title":"J Neurosci"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib90","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/j.neuron.2009.01.015","article-title":"Synaptic AMPA receptor plasticity and behavior","volume":"61","author":"Kessels","year":"2009","journal-title":"Neuron"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib91","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1001\/jamaneurol.2019.4611","article-title":"Ambroxol for the treatment of patients with Parkinson disease with and without glucocerebrosidase gene mutations: a nonrandomized, noncontrolled trial","volume":"77","author":"Mullin","year":"2020","journal-title":"JAMA Neurol"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib92","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1007\/s00415-019-09181-8","article-title":"Deep brain stimulation for monogenic Parkinson's disease: a systematic review","volume":"267","author":"Kuusim\u00e4ki","year":"2020","journal-title":"J Neurol"},{"issue":"5","key":"10.1016\/j.gendis.2021.12.015_bib93","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1038\/nn.4529","article-title":"\u0391-Synuclein promotes dilation of the exocytotic fusion pore","volume":"20","author":"Logan","year":"2017","journal-title":"Nat Neurosci"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib94","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1038\/ng0298-106","article-title":"AlaSOPro mutation in the gene encoding \u03b1-synuclein in Parkinson's disease","volume":"18","author":"Kr\u00fcger","year":"1998","journal-title":"Nat Genet"},{"issue":"Suppl 1","key":"10.1016\/j.gendis.2021.12.015_bib95","doi-asserted-by":"crossref","first-page":"S1","DOI":"10.1016\/j.parkreldis.2015.09.007","article-title":"Autosomal dominant Parkinson's disease caused by SNCA duplications","volume":"22","author":"Konno","year":"2016","journal-title":"Park Relat Disord"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib96","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/ana.20438","article-title":"Multiple regions of alpha-synuclein are associated with Parkinson's disease","volume":"57","author":"Mueller","year":"2005","journal-title":"Ann Neurol"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib97","doi-asserted-by":"crossref","first-page":"2828","DOI":"10.1093\/brain\/awz191","article-title":"Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study","volume":"142","author":"Tan","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.gendis.2021.12.015_bib98","first-page":"9024894","article-title":"Novel compound heterozygous PRKN variants in a Han-Chinese family with early-onset Parkinson's disease","volume":"2019","author":"Fan","year":"2019","journal-title":"Parkinsons Dis"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib99","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1038\/ng0398-262","article-title":"A susceptibility locus for Parkinson's disease maps to chromosome 2p13","volume":"18","author":"Gasser","year":"1998","journal-title":"Nat Genet"},{"issue":"6701","key":"10.1016\/j.gendis.2021.12.015_bib100","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1038\/26652","article-title":"The ubiquitin pathway in Parkinson's disease","volume":"395","author":"Leroy","year":"1998","journal-title":"Nature"},{"issue":"41","key":"10.1016\/j.gendis.2021.12.015_bib101","doi-asserted-by":"crossref","first-page":"15091","DOI":"10.1073\/pnas.0607260103","article-title":"DJ-1, a cancer- and Parkinson's disease-associated protein, stabilizes the antioxidant transcriptional master regulator Nrf2","volume":"103","author":"Clements","year":"2006","journal-title":"Proc Natl Acad Sci Unit States Am"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib102","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1002\/ana.10675","article-title":"The role of pathogenic DJ-1 mutations in Parkinson's disease","volume":"54","author":"Abou-Sleiman","year":"2003","journal-title":"Ann Neurol"},{"issue":"5","key":"10.1016\/j.gendis.2021.12.015_bib103","doi-asserted-by":"crossref","first-page":"1070","DOI":"10.1042\/BST20120165","article-title":"Cellular effects of LRRK2 mutations","volume":"40","author":"Cookson","year":"2012","journal-title":"Biochem Soc Trans"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib104","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1016\/j.mcp.2016.11.001","article-title":"Genetics of Parkinson's disease","volume":"30","author":"Lill","year":"2016","journal-title":"Mol Cell Probes"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib105","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.2174\/1570159X16666180222165418","article-title":"The role of LRRK2 in neurodegeneration of Parkinson disease","volume":"16","author":"Rui","year":"2018","journal-title":"Curr Neuropharmacol"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib106","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1016\/j.bbrc.2004.08.156","article-title":"Characterization of the P5 subfamily of P-type transport ATPases in mice","volume":"323","author":"Schultheis","year":"2004","journal-title":"Biochem Biophys Res Commun"},{"issue":"8","key":"10.1016\/j.gendis.2021.12.015_bib107","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1002\/mds.22947","article-title":"ATP13A2 mutations (PARK9) cause neurodegeneration with brain iron accumulation","volume":"25","author":"Schneider","year":"2010","journal-title":"Mov Disord"},{"issue":"10","key":"10.1016\/j.gendis.2021.12.015_bib108","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1038\/ng1884","article-title":"Hereditary Parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase","volume":"38","author":"Ramirez","year":"2006","journal-title":"Nat Genet"},{"issue":"19","key":"10.1016\/j.gendis.2021.12.015_bib109","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1212\/01.wnl.0000260963.08711.08","article-title":"ATP13A2 missense mutations in juvenile Parkinsonism and young onset Parkinson disease","volume":"68","author":"di Fonzo","year":"2007","journal-title":"Neurology"},{"issue":"12","key":"10.1016\/j.gendis.2021.12.015_bib110","doi-asserted-by":"crossref","first-page":"2646","DOI":"10.1093\/hmg\/dds089","article-title":"Mutation of the Parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis","volume":"21","author":"Bras","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib111","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/s10048-010-0259-0","article-title":"Novel ATP13A2 (PARK9) homozygous mutation in a family with marked phenotype variability","volume":"12","author":"Santoro","year":"2011","journal-title":"Neurogenetics"},{"issue":"5","key":"10.1016\/j.gendis.2021.12.015_bib112","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1111\/j.1600-0404.1994.tb02645.x","article-title":"Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: kufor-rakeb syndrome","volume":"89","author":"Najim al-Din","year":"1994","journal-title":"Acta Neurol Scand"},{"issue":"5","key":"10.1016\/j.gendis.2021.12.015_bib113","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1002\/ana.10324","article-title":"A susceptibility gene for late-onset idiopathic Parkinson's disease","volume":"52","author":"Hicks","year":"2002","journal-title":"Ann Neurol"},{"issue":"17","key":"10.1016\/j.gendis.2021.12.015_bib114","doi-asserted-by":"crossref","first-page":"3585","DOI":"10.1128\/MCB.00455-12","article-title":"A novel 4EHP-GIGYF2 translational repressor complex is essential for mammalian development","volume":"32","author":"Morita","year":"2012","journal-title":"Mol Cell Biol"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib115","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1093\/hmg\/ddn340","article-title":"Lack of replication of association between GIGYF2 variants and Parkinson disease","volume":"18","author":"Bras","year":"2009","journal-title":"Hum Mol Genet"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib116","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1016\/j.ajhg.2008.01.015","article-title":"Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease","volume":"82","author":"Lautier","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib117","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1086\/341282","article-title":"Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations","volume":"71","author":"Pankratz","year":"2002","journal-title":"Am J Hum Genet"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib118","doi-asserted-by":"crossref","first-page":"H643","DOI":"10.1152\/ajpheart.00234.2009","article-title":"THAP5 is a human cardiac-specific inhibitor of cell cycle that is cleaved by the proapoptotic Omi\/HtrA2 protease during cell death","volume":"297","author":"Balakrishnan","year":"2009","journal-title":"Am J Physiol Heart Circ Physiol"},{"issue":"15","key":"10.1016\/j.gendis.2021.12.015_bib119","doi-asserted-by":"crossref","first-page":"2099","DOI":"10.1093\/hmg\/ddi215","article-title":"Loss of function mutations in the gene encoding Omi\/HtrA2 in Parkinson's disease","volume":"14","author":"Strauss","year":"2005","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib120","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1074\/jbc.273.1.207","article-title":"Multiple splice variants of the human calcium-independent phospholipase A2 and their effect on enzyme activity","volume":"273","author":"Larsson","year":"1998","journal-title":"J Biol Chem"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib121","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1002\/ana.21415","article-title":"Characterization of PLA2G6 as a locus for dystonia-Parkinsonism","volume":"65","author":"Paisan-Ruiz","year":"2009","journal-title":"Ann Neurol"},{"issue":"4","key":"10.1016\/j.gendis.2021.12.015_bib122","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1016\/j.bbrc.2006.02.061","article-title":"The F-box protein Fbxo7 interacts with human inhibitor of apoptosis protein cIAP1 and promotes cIAP1 ubiquitination","volume":"342","author":"Chang","year":"2006","journal-title":"Biochem Biophys Res Commun"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib123","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1212\/01.wnl.0000338144.10967.2b","article-title":"FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome","volume":"72","author":"di Fonzo","year":"2009","journal-title":"Neurology"},{"issue":"6","key":"10.1016\/j.gendis.2021.12.015_bib124","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1016\/j.ajhg.2008.05.005","article-title":"Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays","volume":"82","author":"Shojaee","year":"2008","journal-title":"Am J Hum Genet"},{"issue":"14","key":"10.1016\/j.gendis.2021.12.015_bib125","doi-asserted-by":"crossref","first-page":"1310","DOI":"10.1016\/j.cub.2010.05.066","article-title":"Vps35 mediates vesicle transport between the mitochondria and peroxisomes","volume":"20","author":"Braschi","year":"2010","journal-title":"Curr Biol"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib126","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ajhg.2011.06.001","article-title":"VPS35 mutations in Parkinson disease","volume":"89","author":"Vilari\u00f1o-G\u00fcell","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib127","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1016\/j.ajhg.2011.06.008","article-title":"A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease","volume":"89","author":"Zimprich","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib128","doi-asserted-by":"crossref","first-page":"13832","DOI":"10.1038\/s41598-017-14262-7","article-title":"DDX3 regulates endoplasmic reticulum stress-induced ATF4 expression","volume":"7","author":"Adjibade","year":"2017","journal-title":"Sci Rep"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib129","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.ajhg.2011.08.009","article-title":"Translation initiator EIF4G1 mutations in familial Parkinson disease","volume":"89","author":"Chartier-Harlin","year":"2011","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.gendis.2021.12.015_bib130","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.parkreldis.2012.11.006","article-title":"DNAJC6 is responsible for juvenile Parkinsonism with phenotypic variability","volume":"19","author":"K\u00f6ro\u011flu","year":"2013","journal-title":"Park Relat Disord"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib131","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1002\/ana.24591","article-title":"A novel nonsense mutation in DNAJC6 expands the phenotype of autosomal-recessive juvenile-onset Parkinson's disease","volume":"79","author":"Elsayed","year":"2016","journal-title":"Ann Neurol"},{"issue":"2","key":"10.1016\/j.gendis.2021.12.015_bib132","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1002\/ana.24553","article-title":"DNAJC6 mutations associated with early-onset Parkinson's disease","volume":"79","author":"Olgiati","year":"2016","journal-title":"Ann Neurol"},{"issue":"5","key":"10.1016\/j.gendis.2021.12.015_bib133","doi-asserted-by":"crossref","first-page":"e36458","DOI":"10.1371\/journal.pone.0036458","article-title":"A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile Parkinsonism","volume":"7","author":"Edvardson","year":"2012","journal-title":"PLoS One"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib134","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1002\/humu.22372","article-title":"The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures","volume":"34","author":"Krebs","year":"2013","journal-title":"Hum Mutat"},{"issue":"9","key":"10.1016\/j.gendis.2021.12.015_bib135","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1002\/humu.22373","article-title":"Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset Parkinsonism","volume":"34","author":"Quadri","year":"2013","journal-title":"Hum Mutat"},{"key":"10.1016\/j.gendis.2021.12.015_bib136","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.parkreldis.2016.07.014","article-title":"Identification of a novel homozygous mutation Arg459Pro in SYNJ1 gene of an Indian family with autosomal recessive juvenile Parkinsonism","volume":"31","author":"Kirola","year":"2016","journal-title":"Park Relat Disord"},{"issue":"Pt 9","key":"10.1016\/j.gendis.2021.12.015_bib137","first-page":"2053","article-title":"RME-8 coordinates the activity of the WASH complex with the function of the retromer SNX dimer to control endosomal tubulation","volume":"127","author":"Freeman","year":"2014","journal-title":"J Cell Sci"},{"issue":"7","key":"10.1016\/j.gendis.2021.12.015_bib138","doi-asserted-by":"crossref","first-page":"1794","DOI":"10.1093\/hmg\/ddt570","article-title":"DNAJC13 mutations in Parkinson disease","volume":"23","author":"Vilari\u00f1o-G\u00fcell","year":"2014","journal-title":"Hum Mol Genet"},{"issue":"7","key":"10.1016\/j.gendis.2021.12.015_bib139","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/S1474-4422(15)00094-0","article-title":"CHCHD2 and Parkinson's disease","volume":"14","author":"Jansen","year":"2015","journal-title":"Lancet Neurol"},{"issue":"1","key":"10.1016\/j.gendis.2021.12.015_bib140","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1038\/s41467-019-09234-6","article-title":"Metascape provides a biologist-oriented resource for the analysis of systems-level datasets","volume":"10","author":"Zhou","year":"2019","journal-title":"Nat Commun"}],"container-title":["Genes & Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304222000095?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352304222000095?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T17:34:25Z","timestamp":1762450465000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352304222000095"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5]]},"references-count":140,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,5]]}},"alternative-id":["S2352304222000095"],"URL":"https:\/\/doi.org\/10.1016\/j.gendis.2021.12.015","relation":{},"ISSN":["2352-3042"],"issn-type":[{"value":"2352-3042","type":"print"}],"subject":[],"published":{"date-parts":[[2023,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Parkinson's disease: From genetics to molecular dysfunction and targeted therapeutic approaches","name":"articletitle","label":"Article Title"},{"value":"Genes & Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.gendis.2021.12.015","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 The Authors. Publishing services by Elsevier B.V. on behalf of KeAi Communications Co., Ltd.","name":"copyright","label":"Copyright"}]}}