{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:23:10Z","timestamp":1789690990922,"version":"4.0.1"},"reference-count":112,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.fr","clinicalkey.com.au","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neurobiology of Aging"],"published-print":{"date-parts":[[2018,5]]},"DOI":"10.1016\/j.neurobiolaging.2018.01.021","type":"journal-article","created":{"date-parts":[[2018,2,7]],"date-time":"2018-02-07T03:04:11Z","timestamp":1517972651000},"page":"206-216","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":17,"special_numbering":"C","title":["Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations"],"prefix":"10.1016","volume":"65","author":[{"given":"Ingrid","family":"Gonz\u00e1lez-Casacuberta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Constanza","family":"Mor\u00e9n","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana-Luz","family":"Ju\u00e1rez-Flores","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Esteve-Codina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Sierra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Catal\u00e1n-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariona","family":"Guitart-Mampel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ester","family":"Tob\u00edas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 C\u00e9sar","family":"Milisenda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claustre","family":"Pont-Sunyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Mart\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesc","family":"Cardellach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduard","family":"Tolosa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafael","family":"Artuch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Ezquerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rub\u00e9n","family":"Fern\u00e1ndez-Santiago","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gl\u00f2ria","family":"Garrabou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib1","doi-asserted-by":"crossref","first-page":"10731","DOI":"10.1523\/JNEUROSCI.0614-15.2015","article-title":"Trib3 is elevated in Parkinson's disease and mediates death in Parkinson's disease models","volume":"35","author":"Aime","year":"2015","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib2","first-page":"18","article-title":"Epidemiology of Parkinson's disease","volume":"255 Suppl 5","author":"Alves","year":"2008","journal-title":"J.\u00a0Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib3","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1016\/j.bbadis.2014.05.008","article-title":"Bioenergetic and proteolytic defects in fibroblasts from patients with sporadic Parkinson's disease","volume":"1842","author":"Ambrosi","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib4","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/j.tibs.2014.02.004","article-title":"Serine and glycine metabolism in cancer","volume":"39","author":"Amelio","year":"2014","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib5","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1471-5945-14-5","article-title":"A\u00a0laboratory-based study on patients with Parkinson's disease and seborrheic dermatitis: the presence and density of Malassezia yeasts, their different species and enzymes production","volume":"14","author":"Arsic Arsenijevic","year":"2014","journal-title":"BMC Dermatol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib6","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1007\/s12035-012-8245-1","article-title":"Primary skin fibroblasts as a model of Parkinson's disease","volume":"46","author":"Auburger","year":"2012","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib7","doi-asserted-by":"crossref","first-page":"12842","DOI":"10.1074\/jbc.M608243200","article-title":"Phosphorylation of Parkin by the cyclin-dependent kinase 5 at the linker region modulates its ubiquitin-ligase activity and aggregation","volume":"282","author":"Avraham","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib8","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1007\/s12035-016-0303-7","article-title":"LRRK2 expression is deregulated in fibroblasts and neurons from Parkinson patients with mutations in PINK1","volume":"55","author":"Azkona","year":"2018","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib9","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1007\/s00401-010-0664-3","article-title":"Multi-organ distribution of phosphorylated alpha-synuclein histopathology in subjects with Lewy body disorders","volume":"119","author":"Beach","year":"2010","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib10","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1111\/j.2517-6161.1995.tb02031.x","article-title":"Controlling the false discovery rate: a practical and powerful approach to multiple testing","volume":"57","author":"Benjamini","year":"1995","journal-title":"J.\u00a0R. Stat. Soc. Ser. B (Methodological)"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib11","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1042\/BST20120122","article-title":"The importance of Wnt signalling for neurodegeneration in Parkinson's disease","volume":"40","author":"Berwick","year":"2012","journal-title":"Biochem. Soc. Trans."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib12","doi-asserted-by":"crossref","first-page":"S23","DOI":"10.1016\/S1353-8020(13)70009-9","article-title":"Genetics of Parkinson's disease\u2013state of the art, 2013","volume":"20 Suppl 1","author":"Bonifati","year":"2014","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib13","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1212\/01.wnl.0000167546.39375.82","article-title":"Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes","volume":"65","author":"Bonifati","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib14","doi-asserted-by":"crossref","first-page":"152","DOI":"10.1016\/j.brainres.2012.05.036","article-title":"Brain transcriptomic profiling in idiopathic and LRRK2-associated Parkinson's disease","volume":"1466","author":"Botta-Orfila","year":"2012","journal-title":"Brain Res."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib15","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1016\/j.nbd.2011.08.033","article-title":"Microarray expression analysis in idiopathic and LRRK2-associated Parkinson's disease","volume":"45","author":"Botta-Orfila","year":"2012","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib16","doi-asserted-by":"crossref","first-page":"2258","DOI":"10.1212\/WNL.43.11.2258","article-title":"Mitochondrial respiratory chain activity in skeletal muscle from patients with Parkinson's disease","volume":"43","author":"Cardellach","year":"1993","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib17","doi-asserted-by":"crossref","first-page":"R3","DOI":"10.1186\/gb-2007-8-1-r3","article-title":"GENECODIS: a web-based tool for finding significant concurrent annotations in gene lists","volume":"8","author":"Carmona-Saez","year":"2007","journal-title":"Genome Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib18","doi-asserted-by":"crossref","first-page":"e37467","DOI":"10.1371\/journal.pone.0037467","article-title":"Microtubule destabilization is shared by genetic and idiopathic Parkinson's disease patient fibroblasts","volume":"7","author":"Cartelli","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib19","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jns.2011.09.030","article-title":"Autonomic involvement in Parkinson's disease: pathology, pathophysiology, clinical features and possible peripheral biomarkers","volume":"313","author":"Cersosimo","year":"2012","journal-title":"J.\u00a0Neurol. Sci."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib20","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1016\/j.mehy.2014.04.029","article-title":"Interactions between cell adhesion and the synaptic vesicle cycle in Parkinson's disease","volume":"83","author":"Chapman","year":"2014","journal-title":"Med. hypotheses"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib21","doi-asserted-by":"crossref","first-page":"464","DOI":"10.1016\/S1474-4422(09)70068-7","article-title":"Non-motor symptoms of Parkinson's disease: dopaminergic pathophysiology and treatment","volume":"8","author":"Chaudhuri","year":"2009","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib22","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.stemcr.2016.08.012","article-title":"Parkin and PINK1 patient iPSC-derived midbrain dopamine neurons exhibit mitochondrial dysfunction and alpha-synuclein accumulation","volume":"7","author":"Chung","year":"2016","journal-title":"Stem Cel. Rep."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib23","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1001\/archneur.63.4.548","article-title":"Case-control study of the parkin gene in early-onset Parkinson disease","volume":"63","author":"Clark","year":"2006","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib24","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/nature04779","article-title":"Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin","volume":"441","author":"Clark","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib25","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ncb1981","article-title":"Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease","volume":"11","author":"da Costa","year":"2009","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib26","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1007\/s00702-005-0431-0","article-title":"Skin biopsy for assessment of autonomic denervation in Parkinson's disease","volume":"113","author":"Dabby","year":"2006","journal-title":"J.\u00a0Neural Transm."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib27","doi-asserted-by":"crossref","first-page":"9611","DOI":"10.1073\/pnas.1112368109","article-title":"Loss of P-type ATPase ATP13A2\/PARK9 function induces general lysosomal deficiency and leads to Parkinson disease neurodegeneration","volume":"109","author":"Dehay","year":"2012","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib28","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1002\/mds.22172","article-title":"Lesions outside the CNS in Parkinson's disease","volume":"24","author":"Djaldetti","year":"2009","journal-title":"Mov. Disord."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib29","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1007\/s10048-006-0033-5","article-title":"Transcriptome analysis reveals link between proteasomal and mitochondrial pathways in Parkinson's disease","volume":"7","author":"Duke","year":"2006","journal-title":"Neurogenetics"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib30","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1007\/s10048-006-0077-6","article-title":"The medial and lateral substantia nigra in Parkinson's disease: mRNA profiles associated with higher brain tissue vulnerability","volume":"8","author":"Duke","year":"2007","journal-title":"Neurogenetics"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib31","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1093\/jmcb\/mjt003","article-title":"Parkin differently regulates presenilin-1 and presenilin-2 functions by direct control of their promoter transcription","volume":"5","author":"Duplan","year":"2013","journal-title":"J.\u00a0Mol. Cell Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib32","first-page":"214714","article-title":"Inflammatory pathways in Parkinson's disease; a BNE microarray study","volume":"2012","author":"Durrenberger","year":"2012","journal-title":"Parkinsons Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib33","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1001\/jamaneurol.2016.0022","article-title":"Exploring the association between rosacea and Parkinson disease: a Danish Nationwide cohort study","volume":"73","author":"Egeberg","year":"2016","journal-title":"JAMA Neurol."},{"issue":"2","key":"10.1016\/j.neurobiolaging.2018.01.021_bib34","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.neuron.2011.11.017","article-title":"Notch signaling inhibits axon regeneration","volume":"73","author":"El Bejjani","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib35","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s00401-011-0828-9","article-title":"Expression analysis of dopaminergic neurons in Parkinson's disease and aging links transcriptional dysregulation of energy metabolism to cell death","volume":"122","author":"Elstner","year":"2011","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib36","doi-asserted-by":"crossref","first-page":"1529","DOI":"10.15252\/emmm.201505439","article-title":"Aberrant epigenome in iPSC-derived dopaminergic neurons from Parkinson's disease patients","volume":"7","author":"Fernandez-Santiago","year":"2015","journal-title":"EMBO Mol. Med."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib37","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1002\/humu.22808","article-title":"Structural and functional impact of Parkinson disease-associated mutations in the E3 ubiquitin ligase parkin","volume":"36","author":"Fiesel","year":"2015","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib38","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1038\/emboj.2013.70","article-title":"Parkin promotes cell survival via linear ubiquitination","volume":"32","author":"Fiskin","year":"2013","journal-title":"EMBO J."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib39","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.gde.2012.04.003","article-title":"Notch signaling and neural connectivity","volume":"22","author":"Giniger","year":"2012","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib40","doi-asserted-by":"crossref","first-page":"e12962","DOI":"10.1371\/journal.pone.0012962","article-title":"Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts","volume":"5","author":"Grunewald","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib41","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1007\/s00702-004-0212-1","article-title":"Gene expression profiling of parkinsonian substantia nigra pars compacta; alterations in ubiquitin-proteasome, heat shock protein, iron and oxidative stress regulated proteins, cell adhesion\/cellular matrix and vesicle trafficking genes","volume":"111","author":"Grunblatt","year":"2004","journal-title":"J.\u00a0Neural Transm."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib42","doi-asserted-by":"crossref","first-page":"2093","DOI":"10.1038\/s41598-017-02339-2","article-title":"Parkin regulation of CHOP modulates susceptibility to cardiac endoplasmic reticulum stress","volume":"7","author":"Han","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib43","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1038\/nature12748","article-title":"High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy","volume":"504","author":"Hasson","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib44","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1001\/archneur.62.6.917","article-title":"Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism","volume":"62","author":"Hauser","year":"2005","journal-title":"Arch. Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib45","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/j.expneurol.2008.04.004","article-title":"Parkinson patient fibroblasts show increased alpha-synuclein expression","volume":"212","author":"Hoepken","year":"2008","journal-title":"Exp. Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib46","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1212\/WNL.42.6.1142","article-title":"What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinicopathologic study","volume":"42","author":"Hughes","year":"1992","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib47","doi-asserted-by":"crossref","first-page":"e1005503","DOI":"10.1371\/journal.pgen.1005503","article-title":"The Parkinson's disease-associated protein kinase LRRK2 modulates Notch signaling through the Endosomal pathway","volume":"11","author":"Imai","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib48","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/1756-6606-5-35","article-title":"Mitochondrial dysfunction associated with increased oxidative stress and alpha-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue","volume":"5","author":"Imaizumi","year":"2012","journal-title":"Mol. Brain"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib49","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1016\/j.neurobiolaging.2014.10.039","article-title":"Identification of candidate genes for Parkinson's disease through blood transcriptome analysis in LRRK2-G2019S carriers, idiopathic cases, and controls","volume":"36","author":"Infante","year":"2015","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib50","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/j.parkreldis.2010.08.022","article-title":"Multi-organ autonomic dysfunction in Parkinson disease","volume":"17","author":"Jain","year":"2011","journal-title":"Parkinsonism Relat. Disord."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib51","doi-asserted-by":"crossref","first-page":"15851","DOI":"10.1074\/jbc.M611723200","article-title":"TRB3 inhibits the transcriptional activation of stress-regulated genes by a negative feedback on the ATF4 pathway","volume":"282","author":"Jousse","year":"2007","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib52","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/978-0-387-76715-4_7","article-title":"The role of cell adhesion molecules in axon growth and guidance","volume":"621","author":"Kamiguchi","year":"2007","journal-title":"Adv. Exp. Med. Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib53","doi-asserted-by":"crossref","first-page":"a008888","DOI":"10.1101\/cshperspect.a008888","article-title":"Genetics of Parkinson's disease","volume":"2","author":"Klein","year":"2012","journal-title":"Cold Spring Harb. Perspect. Med."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib54","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.neuroscience.2009.12.068","article-title":"Enhanced vulnerability of PARK6 patient skin fibroblasts to apoptosis induced by proteasomal stress","volume":"166","author":"Klinkenberg","year":"2010","journal-title":"Neuroscience"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib55","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1007\/8904_2016_529","article-title":"Treatment with mefolinate (5-methyltetrahydrofolate), but not folic acid or folinic acid, leads to measurable 5-methyltetrahydrofolate in cerebrospinal fluid in methylenetetrahydrofolate reductase deficiency","volume":"29","author":"Knowles","year":"2016","journal-title":"JIMD Rep."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib56","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/S1474-4422(06)70471-9","article-title":"Epidemiology of Parkinson's disease","volume":"5","author":"de Lau","year":"2006","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib57","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1136\/jnnp-2016-314857","article-title":"Plasma alpha-synuclein predicts cognitive decline in Parkinson's disease","volume":"88","author":"Lin","year":"2017","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib58","doi-asserted-by":"crossref","first-page":"2002","DOI":"10.1212\/WNL.0b013e31821e554e","article-title":"Meta-analysis of the relationship between Parkinson disease and melanoma","volume":"76","author":"Liu","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib59","doi-asserted-by":"crossref","first-page":"1960","DOI":"10.1016\/j.bbadis.2015.06.015","article-title":"Altered protein expression pattern in skin fibroblasts from parkin-mutant early-onset Parkinson's disease patients","volume":"1852","author":"Lippolis","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib60","doi-asserted-by":"crossref","first-page":"e1002207","DOI":"10.1371\/journal.pgen.1002207","article-title":"Variance of gene expression identifies altered network constraints in neurological disease","volume":"7","author":"Mar","year":"2011","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib61","doi-asserted-by":"crossref","first-page":"1185","DOI":"10.1038\/nmeth.2221","article-title":"The GEM mapper: fast, accurate and versatile alignment by filtration","volume":"9","author":"Marco-Sola","year":"2012","journal-title":"Nat. Methods"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib62","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1242\/dmm.005447","article-title":"Disease-specific, neurosphere-derived cells as models for brain disorders","volume":"3","author":"Matigian","year":"2010","journal-title":"Dis. Models Mech."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib63","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1016\/j.nbd.2005.07.010","article-title":"Robust dysregulation of gene expression in substantia nigra and striatum in Parkinson's disease","volume":"21","author":"Miller","year":"2006","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib64","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1038\/nature08903","article-title":"Transcriptome genetics using second generation sequencing in a Caucasian population","volume":"464","author":"Montgomery","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib65","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1002\/ana.21492","article-title":"Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts","volume":"64","author":"Mortiboys","year":"2008","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib66","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1212\/WNL.0b013e3181ff9685","article-title":"Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2","volume":"75","author":"Mortiboys","year":"2010","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib67","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1136\/jnnp.73.5.582","article-title":"Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism","volume":"73","author":"Munoz","year":"2002","journal-title":"J.\u00a0Neurol. Neurosurg. Psychiatry"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib68","doi-asserted-by":"crossref","first-page":"1839","DOI":"10.1016\/j.neurobiolaging.2009.10.016","article-title":"Transcriptional profile of Parkinson blood mononuclear cells with LRRK2 mutation","volume":"32","author":"Mutez","year":"2011","journal-title":"Neurobiol. Aging"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib69","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/j.nbd.2013.11.007","article-title":"Involvement of the immune system, endocytosis and EIF2 signaling in both genetically determined and sporadic forms of Parkinson's disease","volume":"63","author":"Mutez","year":"2014","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib70","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1007\/s00401-010-0740-8","article-title":"Mitochondrial abnormalities in the putamen in Parkinson's disease dyskinesia","volume":"120","author":"Naydenov","year":"2010","journal-title":"Acta Neuropathol"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib71","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.cmet.2016.01.019","article-title":"Mitochondrial DNA replication defects disturb cellular dNTP pools and remodel one-carbon metabolism","volume":"23","author":"Nikkanen","year":"2016","journal-title":"Cell Metab."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib72","doi-asserted-by":"crossref","first-page":"W317","DOI":"10.1093\/nar\/gkp416","article-title":"GeneCodis: interpreting gene lists through enrichment analysis and integration of diverse biological information","volume":"37","author":"Nogales-Cadenas","year":"2009","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib73","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/sj.emboj.7600596","article-title":"TRB3, a novel ER stress-inducible gene, is induced via ATF4-CHOP pathway and is involved in cell death","volume":"24","author":"Ohoka","year":"2005","journal-title":"EMBO J."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib74","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.conb.2014.05.005","article-title":"Axon guidance and injury-lessons from Wnts and Wnt signaling","volume":"27","author":"Onishi","year":"2014","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib75","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1016\/j.cca.2006.03.004","article-title":"Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population","volume":"371","author":"Ormazabal","year":"2006","journal-title":"Clinica Chim. Acta Int. J. Clin. Chem."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib76","doi-asserted-by":"crossref","first-page":"1349","DOI":"10.1016\/j.drudis.2015.07.002","article-title":"Can folic acid have a role in mitochondrial disorders?","volume":"20","author":"Ormazabal","year":"2015","journal-title":"Drug Discov. Today"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib77","doi-asserted-by":"crossref","first-page":"4201","DOI":"10.1093\/hmg\/dds244","article-title":"G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarization","volume":"21","author":"Papkovskaia","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib78","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1038\/nature04788","article-title":"Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin","volume":"441","author":"Park","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib79","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1016\/j.neuron.2014.12.007","article-title":"The roles of PINK1, parkin, and mitochondrial fidelity in Parkinson's disease","volume":"85","author":"Pickrell","year":"2015","journal-title":"Neuron"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib80","doi-asserted-by":"crossref","first-page":"2223","DOI":"10.1074\/jbc.M112.391680","article-title":"Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons","volume":"288","author":"Rakovic","year":"2013","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib81","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1111\/nan.12147","article-title":"Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions","volume":"41","author":"Raman","year":"2015","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib82","doi-asserted-by":"crossref","first-page":"87","DOI":"10.2147\/CCID.S130319","article-title":"Skin disorders in Parkinson's disease: potential biomarkers and risk factors","volume":"10","author":"Ravn","year":"2017","journal-title":"Clin. Cosmet. Investig. Dermatol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib83","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1002\/stem.1854","article-title":"Parkin mutations reduce the complexity of neuronal processes in iPSC-derived human neurons","volume":"33","author":"Ren","year":"2015","journal-title":"Stem Cells"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib84","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2010-11-3-r25","article-title":"A\u00a0scaling normalization method for differential expression analysis of RNA-seq data","volume":"11","author":"Robinson","year":"2010","journal-title":"Genome Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib85","doi-asserted-by":"crossref","first-page":"e1364","DOI":"10.1038\/cddis.2014.333","article-title":"Parkin loss of function contributes to RTP801 elevation and neurodegeneration in Parkinson's disease","volume":"5","author":"Romani-Aumedes","year":"2014","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib86","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.nbd.2004.08.016","article-title":"Analysis of gene expression changes in a cellular model of Parkinson disease","volume":"18","author":"Ryu","year":"2005","journal-title":"Neurobiol. Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib87","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s11011-009-9139-4","article-title":"Evidence that folic acid deficiency is a major determinant of hyperhomocysteinemia in Parkinson's disease","volume":"24","author":"dos Santos","year":"2009","journal-title":"Metab. Brain Dis."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib88","doi-asserted-by":"crossref","first-page":"a008003","DOI":"10.1101\/cshperspect.a008003","article-title":"Wnt signaling in the vertebrate central nervous system: from axon guidance to synaptic function","volume":"4","author":"Salinas","year":"2012","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib89","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1038\/nature12043","article-title":"Landscape of the PARKIN-dependent ubiquitylome in response to mitochondrial depolarization","volume":"496","author":"Sarraf","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib90","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1111\/febs.13249","article-title":"Parkin structure and function","volume":"282","author":"Seirafi","year":"2015","journal-title":"FEBS J."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib91","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1073\/pnas.0610204104","article-title":"Molecular markers of early Parkinson's disease based on gene expression in blood","volume":"104","author":"Scherzer","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib92","doi-asserted-by":"crossref","first-page":"e57","DOI":"10.1093\/nar\/gnf056","article-title":"Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification","volume":"30","author":"Schouten","year":"2002","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib93","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1080\/00207454.2016.1255612","article-title":"Second mutation in PARK2 is absent in patients with sporadic Parkinson's disease and heterozygous exonic deletions\/duplications in parkin gene","volume":"127","author":"Shulskaya","year":"2017","journal-title":"Int. J. Neurosci."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib94","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.coph.2015.10.007","article-title":"Transcriptome profiling in Parkinson's leukocytes: from early diagnostics to neuroimmune therapeutic prospects","volume":"26","author":"Simchovitz","year":"2016","journal-title":"Curr. Opin. Pharmacol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib95","doi-asserted-by":"crossref","first-page":"e8856","DOI":"10.1371\/journal.pone.0008856","article-title":"Evidence for gender-specific transcriptional profiles of nigral dopamine neurons in Parkinson disease","volume":"5","author":"Simunovic","year":"2010","journal-title":"PLoS One"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib96","doi-asserted-by":"crossref","first-page":"1588","DOI":"10.1002\/mds.22184","article-title":"Neuronal gene expression correlates of Parkinson's disease with dementia","volume":"23","author":"Stamper","year":"2008","journal-title":"Move. Disord."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib97","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1038\/nrm.2017.66","article-title":"Mitochondrial diseases: the contribution of organelle stress responses to pathology","volume":"19","author":"Suomalainen","year":"2018","journal-title":"Nat. Rev. Mol. Cel. Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib98","doi-asserted-by":"crossref","first-page":"W478","DOI":"10.1093\/nar\/gks402","article-title":"GeneCodis3: a non-redundant and modular enrichment analysis tool for functional genomics","volume":"40","author":"Tabas-Madrid","year":"2012","journal-title":"Nucleic Acids Res."},{"issue":"1 Suppl","key":"10.1016\/j.neurobiolaging.2018.01.021_bib99","article-title":"Seborrheic dermatitis and risk of future Parkinson's disease (PD) (S42.001)","volume":"78","author":"Tanner","year":"2012","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib100","doi-asserted-by":"crossref","first-page":"29231","DOI":"10.1074\/jbc.M110.108241","article-title":"Parkin enhances the expression of cyclin-dependent kinase 6 and negatively regulates the proliferation of breast cancer cells","volume":"285","author":"Tay","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib101","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1002\/ana.24373","article-title":"The MC1R melanoma risk variant p.R160W is associated with Parkinson disease","volume":"77","author":"Tell-Marti","year":"2015","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib102","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1146\/annurev.nutr.012809.104810","article-title":"Compartmentalization of Mammalian folate-mediated one-carbon metabolism","volume":"30","author":"Tibbetts","year":"2010","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib103","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1212\/WNL.43.2.372","article-title":"Loss of basic fibroblast growth factor in substantia nigra neurons in Parkinson's disease","volume":"43","author":"Tooyama","year":"1993","journal-title":"Neurology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib104","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1016\/0006-8993(94)91378-1","article-title":"Retention of basic fibroblast growth factor immunoreactivity in dopaminergic neurons of the substantia nigra during normal aging in humans contrasts with loss in Parkinson's disease","volume":"656","author":"Tooyama","year":"1994","journal-title":"Brain Res."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib105","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/ncb2901","article-title":"Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease","volume":"16","author":"Tufi","year":"2014","journal-title":"Nat. Cel. Biol."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib106","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s11033-005-3961-5","article-title":"Parkin modulates gene expression in control and ceramide-treated PC12 cells","volume":"33","author":"Unschuld","year":"2006","journal-title":"Mol. Biol. Rep."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib107","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.tox.2014.07.001","article-title":"G2019S LRRK2 mutant fibroblasts from Parkinson's disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy","volume":"324","author":"Yakhine-Diop","year":"2014","journal-title":"Toxicology"},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib108","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/ajmg.b.30195","article-title":"Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms","volume":"137B1","author":"Zhang","year":"2005","journal-title":"Am. J. Med. Genet. B Neuropsychiatr. Genet."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib109","first-page":"248","article-title":"Parkin regulation and neurodegenerative disorders","volume":"7","author":"Zhang","year":"2015","journal-title":"Front. Aging Neurosci."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib110","doi-asserted-by":"crossref","first-page":"52ra73","DOI":"10.1126\/scitranslmed.3001059","article-title":"PGC-1alpha, a potential therapeutic target for early intervention in Parkinson's disease","volume":"2","author":"Zheng","year":"2010","journal-title":"Sci. Transl. Med."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib111","doi-asserted-by":"crossref","first-page":"e91","DOI":"10.1093\/nar\/gku310","article-title":"Robustly detecting differential expression in RNA sequencing data using observation weights","volume":"42","author":"Zhou","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neurobiolaging.2018.01.021_bib112","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.tins.2004.06.015","article-title":"Wnt signaling in axon guidance","volume":"27","author":"Zou","year":"2004","journal-title":"Trends Neurosci."}],"updated-by":[{"DOI":"10.1016\/j.neurobiolaging.2018.06.001","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2018,9,1]],"date-time":"2018-09-01T00:00:00Z","timestamp":1535760000000}}],"container-title":["Neurobiology of Aging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458018300368?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0197458018300368?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:55:51Z","timestamp":1719795351000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0197458018300368"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":112,"alternative-id":["S0197458018300368"],"URL":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2018.01.021","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.neurobiolaging.2018.06.001","asserted-by":"object"}]},"ISSN":["0197-4580"],"issn-type":[{"value":"0197-4580","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Transcriptional alterations in skin fibroblasts from Parkinson's disease patients with parkin mutations","name":"articletitle","label":"Article Title"},{"value":"Neurobiology of Aging","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neurobiolaging.2018.01.021","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}