000138456 001__ 138456
000138456 005__ 20240321220434.0
000138456 0247_ $$2doi$$a10.1016/j.ajhg.2016.01.014
000138456 0247_ $$2pmid$$apmid:26942284
000138456 0247_ $$2pmc$$apmc:PMC4800038
000138456 0247_ $$2ISSN$$a0002-9297
000138456 0247_ $$2ISSN$$a1537-6605
000138456 0247_ $$2altmetric$$aaltmetric:6049790
000138456 037__ $$aDZNE-2020-04778
000138456 041__ $$aEnglish
000138456 082__ $$a570
000138456 1001_ $$aLesage, Suzanne$$b0
000138456 245__ $$aLoss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
000138456 260__ $$aNew York, NY$$bElsevier$$c2016
000138456 264_1 $$2Crossref$$3print$$bElsevier BV$$c2016-03-01
000138456 3367_ $$2DRIVER$$aarticle
000138456 3367_ $$2DataCite$$aOutput Types/Journal article
000138456 3367_ $$0PUB:(DE-HGF)16$$2PUB:(DE-HGF)$$aJournal Article$$bjournal$$mjournal$$s1710423763_24477
000138456 3367_ $$2BibTeX$$aARTICLE
000138456 3367_ $$2ORCID$$aJOURNAL_ARTICLE
000138456 3367_ $$00$$2EndNote$$aJournal Article
000138456 520__ $$aAutosomal-recessive early-onset parkinsonism is clinically and genetically heterogeneous. The genetic causes of approximately 50% of autosomal-recessive early-onset forms of Parkinson disease (PD) remain to be elucidated. Homozygozity mapping and exome sequencing in 62 isolated individuals with early-onset parkinsonism and confirmed consanguinity followed by data mining in the exomes of 1,348 PD-affected individuals identified, in three isolated subjects, homozygous or compound heterozygous truncating mutations in vacuolar protein sorting 13C (VPS13C). VPS13C mutations are associated with a distinct form of early-onset parkinsonism characterized by rapid and severe disease progression and early cognitive decline; the pathological features were striking and reminiscent of diffuse Lewy body disease. In cell models, VPS13C partly localized to the outer membrane of mitochondria. Silencing of VPS13C was associated with lower mitochondrial membrane potential, mitochondrial fragmentation, increased respiration rates, exacerbated PINK1/Parkin-dependent mitophagy, and transcriptional upregulation of PARK2 in response to mitochondrial damage. This work suggests that loss of function of VPS13C is a cause of autosomal-recessive early-onset parkinsonism with a distinctive phenotype of rapid and severe progression.
000138456 536__ $$0G:(DE-HGF)POF3-345$$a345 - Population Studies and Genetics (POF3-345)$$cPOF3-345$$fPOF III$$x0
000138456 542__ $$2Crossref$$i2016-03-01$$uhttps://www.elsevier.com/tdm/userlicense/1.0/
000138456 542__ $$2Crossref$$i2016-09-03$$uhttps://www.elsevier.com/open-access/userlicense/1.0/
000138456 588__ $$aDataset connected to CrossRef, PubMed,
000138456 650_7 $$2NLM Chemicals$$aProteins
000138456 650_7 $$2NLM Chemicals$$aVPS13C protein, human
000138456 650_7 $$0EC 2.3.2.27$$2NLM Chemicals$$aUbiquitin-Protein Ligases
000138456 650_7 $$0EC 2.3.2.27$$2NLM Chemicals$$aparkin protein
000138456 650_7 $$0EC 2.7.-$$2NLM Chemicals$$aProtein Kinases
000138456 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aPTEN-induced putative kinase
000138456 650_2 $$2MeSH$$aAdult
000138456 650_2 $$2MeSH$$aAged
000138456 650_2 $$2MeSH$$aAnimals
000138456 650_2 $$2MeSH$$aCOS Cells
000138456 650_2 $$2MeSH$$aCase-Control Studies
000138456 650_2 $$2MeSH$$aConsanguinity
000138456 650_2 $$2MeSH$$aFemale
000138456 650_2 $$2MeSH$$aGene Silencing
000138456 650_2 $$2MeSH$$aGenetic Heterogeneity
000138456 650_2 $$2MeSH$$aHEK293 Cells
000138456 650_2 $$2MeSH$$aHeterozygote
000138456 650_2 $$2MeSH$$aHomozygote
000138456 650_2 $$2MeSH$$aHumans
000138456 650_2 $$2MeSH$$aMale
000138456 650_2 $$2MeSH$$aMiddle Aged
000138456 650_2 $$2MeSH$$aMitophagy: genetics
000138456 650_2 $$2MeSH$$aParkinsonian Disorders: diagnosis
000138456 650_2 $$2MeSH$$aParkinsonian Disorders: genetics
000138456 650_2 $$2MeSH$$aPedigree
000138456 650_2 $$2MeSH$$aPhenotype
000138456 650_2 $$2MeSH$$aProtein Kinases: genetics
000138456 650_2 $$2MeSH$$aProtein Kinases: metabolism
000138456 650_2 $$2MeSH$$aProteins: genetics
000138456 650_2 $$2MeSH$$aProteins: metabolism
000138456 650_2 $$2MeSH$$aReproducibility of Results
000138456 650_2 $$2MeSH$$aTurkey
000138456 650_2 $$2MeSH$$aUbiquitin-Protein Ligases: genetics
000138456 650_2 $$2MeSH$$aUbiquitin-Protein Ligases: metabolism
000138456 7001_ $$aDrouet, Valérie$$b1
000138456 7001_ $$aMajounie, Elisa$$b2
000138456 7001_ $$aDeramecourt, Vincent$$b3
000138456 7001_ $$aJacoupy, Maxime$$b4
000138456 7001_ $$aNicolas, Aude$$b5
000138456 7001_ $$aCormier-Dequaire, Florence$$b6
000138456 7001_ $$aHassoun, Sidi Mohamed$$b7
000138456 7001_ $$aPujol, Claire$$b8
000138456 7001_ $$aCiura, Sorana$$b9
000138456 7001_ $$aErpapazoglou, Zoi$$b10
000138456 7001_ $$aUsenko, Tatiana$$b11
000138456 7001_ $$aMaurage, Claude-Alain$$b12
000138456 7001_ $$aSahbatou, Mourad$$b13
000138456 7001_ $$aLiebau, Stefan$$b14
000138456 7001_ $$aDing, Jinhui$$b15
000138456 7001_ $$aBilgic, Basar$$b16
000138456 7001_ $$aEmre, Murat$$b17
000138456 7001_ $$aErginel-Unaltuna, Nihan$$b18
000138456 7001_ $$aGuven, Gamze$$b19
000138456 7001_ $$aTison, François$$b20
000138456 7001_ $$aTranchant, Christine$$b21
000138456 7001_ $$aVidailhet, Marie$$b22
000138456 7001_ $$aCorvol, Jean-Christophe$$b23
000138456 7001_ $$aKrack, Paul$$b24
000138456 7001_ $$aLeutenegger, Anne-Louise$$b25
000138456 7001_ $$aNalls, Michael A$$b26
000138456 7001_ $$0P:(DE-HGF)0$$aHernandez, Dena G$$b27
000138456 7001_ $$0P:(DE-2719)2810728$$aHeutink, Peter$$b28
000138456 7001_ $$aGibbs, J Raphael$$b29
000138456 7001_ $$aHardy, John$$b30
000138456 7001_ $$aWood, Nicholas W$$b31
000138456 7001_ $$0P:(DE-2719)2320009$$aGasser, Thomas$$b32
000138456 7001_ $$0P:(DE-HGF)0$$aDurr, Alexandra$$b33
000138456 7001_ $$aDeleuze, Jean-François$$b34
000138456 7001_ $$aTazir, Meriem$$b35
000138456 7001_ $$aDestée, Alain$$b36
000138456 7001_ $$0P:(DE-2719)2811891$$aLohmann, Ebba$$b37
000138456 7001_ $$aKabashi, Edor$$b38
000138456 7001_ $$aSingleton, Andrew$$b39
000138456 7001_ $$0P:(DE-HGF)0$$aCorti, Olga$$b40$$eCorresponding author
000138456 7001_ $$aBrice, Alexis$$b41
000138456 7001_ $$aStudy, French Parkinson's Disease Genetics$$b42
000138456 7001_ $$aConsortium, International Parkinson's Disease Genomics$$b43
000138456 7001_ $$aLesage, Suzanne$$b44
000138456 7001_ $$aTison, François$$b45
000138456 7001_ $$aVidailhet, Marie$$b46
000138456 7001_ $$aCorvol, Jean-Christophe$$b47
000138456 7001_ $$aAgid, Yves$$b48
000138456 7001_ $$aAnheim, Mathieu$$b49
000138456 7001_ $$aBonnet, Anne-Marie$$b50
000138456 7001_ $$aBorg, Michel$$b51
000138456 7001_ $$aBroussolle, Emmanuel$$b52
000138456 7001_ $$aDamier, Philippe$$b53
000138456 7001_ $$aDestée, Alain$$b54
000138456 7001_ $$aDurif, Franck$$b55
000138456 7001_ $$aKrack, Paul$$b56
000138456 7001_ $$aKlebe, Stephan$$b57
000138456 7001_ $$aMartinez, Maria$$b58
000138456 7001_ $$aPollak, Pierre$$b59
000138456 7001_ $$aRascol, Olivier$$b60
000138456 7001_ $$aTranchant, Christine$$b61
000138456 7001_ $$aVérin, Marc$$b62
000138456 7001_ $$aViallet, François$$b63
000138456 7001_ $$aBrice, Alexis$$b64
000138456 7001_ $$aLesage, Suzanne$$b65
000138456 7001_ $$aMajounie, Elisa$$b66
000138456 7001_ $$aTison, François$$b67
000138456 7001_ $$aVidailhet, Marie$$b68
000138456 7001_ $$aCorvol, Jean Christophe$$b69
000138456 7001_ $$aNalls, Michael A$$b70
000138456 7001_ $$aGibbs, J Raphael$$b71
000138456 7001_ $$aArepalli, Sampath$$b72
000138456 7001_ $$aBarker, Roger A$$b73
000138456 7001_ $$aBettella, Francesco$$b74
000138456 7001_ $$aBhatia, Kailash$$b75
000138456 7001_ $$ade Bie, Rob M A$$b76
000138456 7001_ $$aBiffi, Alessandro$$b77
000138456 7001_ $$aBloem, Bastiaan R$$b78
000138456 7001_ $$aBochdanovits, Zoltan$$b79
000138456 7001_ $$aBonin, Michael$$b80
000138456 7001_ $$aLesage, Suzanne$$b81
000138456 7001_ $$aTison, François$$b82
000138456 7001_ $$aVidailhet, Marie$$b83
000138456 7001_ $$aCorvol, Jean-Christophe$$b84
000138456 7001_ $$aAgid, Yves$$b85
000138456 7001_ $$aAnheim, Mathieu$$b86
000138456 7001_ $$aBonnet, Anne-Marie$$b87
000138456 7001_ $$aBorg, Michel$$b88
000138456 7001_ $$aBroussolle, Emmanuel$$b89
000138456 7001_ $$aDamier, Philippe$$b90
000138456 7001_ $$aDestée, Alain$$b91
000138456 7001_ $$aDurif, Franck$$b92
000138456 7001_ $$aKrack, Paul$$b93
000138456 7001_ $$aKlebe, Stephan$$b94
000138456 7001_ $$aMartinez, Maria$$b95
000138456 7001_ $$aPollak, Pierre$$b96
000138456 7001_ $$aRascol, Olivier$$b97
000138456 7001_ $$aTranchant, Christine$$b98
000138456 7001_ $$aVérin, Marc$$b99
000138456 7001_ $$aBras, Jose M$$b100
000138456 7001_ $$aBrooks, Janet$$b101
000138456 7001_ $$aBurn, David J$$b102
000138456 7001_ $$aCharlesworth, Gavin$$b103
000138456 7001_ $$aChen, Honglei$$b104
000138456 7001_ $$aChinnery, Patrick F$$b105
000138456 7001_ $$aChong, Sean$$b106
000138456 7001_ $$aClarke, Carl E$$b107
000138456 7001_ $$aCookson, Mark R$$b108
000138456 7001_ $$aCounsell, Carl$$b109
000138456 7001_ $$aDamier, Philippe$$b110
000138456 7001_ $$aDartigues, Jean-François$$b111
000138456 7001_ $$aDeloukas, Panos$$b112
000138456 7001_ $$aDeuschl, Günther$$b113
000138456 7001_ $$aDexter, David T$$b114
000138456 7001_ $$avan Dijk, Karin D$$b115
000138456 7001_ $$aDillman, Allissa$$b116
000138456 7001_ $$aDong, Jing$$b117
000138456 7001_ $$aDurif, Frank$$b118
000138456 7001_ $$aEdkins, Sarah$$b119
000138456 7001_ $$aEscott-Price, Valentina$$b120
000138456 7001_ $$aEvans, Jonathan R$$b121
000138456 7001_ $$aFoltynie, Thomas$$b122
000138456 7001_ $$aGao, Jianjun$$b123
000138456 7001_ $$aGardner, Michelle$$b124
000138456 7001_ $$aGoate, Alison$$b125
000138456 7001_ $$aGray, Emma$$b126
000138456 7001_ $$aGuerreiro, Rita$$b127
000138456 7001_ $$aHarris, Clare$$b128
000138456 7001_ $$avan Hilten, Jacobus J$$b129
000138456 7001_ $$aHofman, Albert$$b130
000138456 7001_ $$aHollenbeck, Albert$$b131
000138456 7001_ $$aHolmans, Peter$$b132
000138456 7001_ $$aHolton, Janice$$b133
000138456 7001_ $$aHu, Michèle$$b134
000138456 7001_ $$aHuang, Xuemei$$b135
000138456 7001_ $$aHudson, Gavin$$b136
000138456 7001_ $$aHunt, Sarah E$$b137
000138456 7001_ $$aHuttenlocher, Johanna$$b138
000138456 7001_ $$aIllig, Thomas$$b139
000138456 7001_ $$aJónsson, Pálmi V$$b140
000138456 7001_ $$aKilarski, Laura L$$b141
000138456 7001_ $$aLambert, Jean-Charles$$b142
000138456 7001_ $$aLangford, Cordelia$$b143
000138456 7001_ $$aLees, Andrew$$b144
000138456 7001_ $$aLichtner, Peter$$b145
000138456 7001_ $$aLimousin, Patricia$$b146
000138456 7001_ $$aLopez, Grisel$$b147
000138456 7001_ $$aLorenz, Delia$$b148
000138456 7001_ $$aLubbe, Steven$$b149
000138456 7001_ $$aLungu, Codrin$$b150
000138456 7001_ $$aMartinez, María$$b151
000138456 7001_ $$aMätzler, Walter$$b152
000138456 7001_ $$aMcNeill, Alisdair$$b153
000138456 7001_ $$aMoorby, Catriona$$b154
000138456 7001_ $$aMoore, Matthew$$b155
000138456 7001_ $$aMorrison, Karen E$$b156
000138456 7001_ $$aMudanohwo, Ese$$b157
000138456 7001_ $$aO'Sullivan, Sean S$$b158
000138456 7001_ $$aOwen, Michael J$$b159
000138456 7001_ $$aPearson, Justin$$b160
000138456 7001_ $$aPerlmutter, Joel S$$b161
000138456 7001_ $$aPétursson, Hjörvar$$b162
000138456 7001_ $$aPlagnol, Vincent$$b163
000138456 7001_ $$aPollak, Pierre$$b164
000138456 7001_ $$aPost, Bart$$b165
000138456 7001_ $$aPotter, Simon$$b166
000138456 7001_ $$aRavina, Bernard$$b167
000138456 7001_ $$aRevesz, Tamas$$b168
000138456 7001_ $$aRiess, Olaf$$b169
000138456 7001_ $$aRivadeneira, Fernando$$b170
000138456 7001_ $$aRyten, Mina$$b171
000138456 7001_ $$aSaad, Mohamad$$b172
000138456 7001_ $$aSimón-Sánchez, Javier$$b173
000138456 7001_ $$aSawcer, Stephen$$b174
000138456 7001_ $$aSchapira, Anthony$$b175
000138456 7001_ $$aScheffer, Hans$$b176
000138456 7001_ $$aShaw, Karen$$b177
000138456 7001_ $$aSheerin, Una-Marie$$b178
000138456 7001_ $$aShoulson, Ira$$b179
000138456 7001_ $$aShulman, Joshua$$b180
000138456 7001_ $$aSidransky, Ellen$$b181
000138456 7001_ $$aSpencer, Chris C A$$b182
000138456 7001_ $$aStefánsson, Hreinn$$b183
000138456 7001_ $$aStefánsson, Kári$$b184
000138456 7001_ $$aStockton, Joanna D$$b185
000138456 7001_ $$aStrange, Amy$$b186
000138456 7001_ $$aTalbot, Kevin$$b187
000138456 7001_ $$aTanner, Carlie M$$b188
000138456 7001_ $$aTashakkori-Ghanbaria, Avazeh$$b189
000138456 7001_ $$aTrabzuni, Daniah$$b190
000138456 7001_ $$aTraynor, Bryan J$$b191
000138456 7001_ $$aUitterlinden, André G$$b192
000138456 7001_ $$aVelseboer, Daan$$b193
000138456 7001_ $$aWalker, Robert$$b194
000138456 7001_ $$avan de Warrenburg, Bart$$b195
000138456 7001_ $$aWickremaratchi, Mirdhu$$b196
000138456 7001_ $$aWilliams-Gray, Caroline H$$b197
000138456 7001_ $$aWinder-Rhodes, Sophie$$b198
000138456 7001_ $$aWilliams, Nigel$$b199
000138456 7001_ $$aMorris, Huw R$$b200
000138456 7001_ $$aHardy, John$$b201
000138456 7001_ $$aWood, Nicholas W$$b202
000138456 7001_ $$aSingleton, Andrew B$$b203
000138456 7001_ $$aBrice, Alexis$$b204
000138456 77318 $$2Crossref$$3journal-article$$a10.1016/j.ajhg.2016.01.014$$b : Elsevier BV, 2016-03-01$$n3$$p500-513$$tThe American Journal of Human Genetics$$v98$$x0002-9297$$y2016
000138456 773__ $$0PERI:(DE-600)1473813-2$$a10.1016/j.ajhg.2016.01.014$$gVol. 98, no. 3, p. 500 - 513$$n3$$p500-513$$q98:3<500 - 513$$tThe American journal of human genetics$$v98$$x0002-9297$$y2016
000138456 8567_ $$2Pubmed Central$$uhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4800038
000138456 8564_ $$uhttps://pub.dzne.de/record/138456/files/DZNE-2020-04778_Restricted.pdf
000138456 8564_ $$uhttps://pub.dzne.de/record/138456/files/DZNE-2020-04778_Restricted.pdf?subformat=pdfa$$xpdfa
000138456 909CO $$ooai:pub.dzne.de:138456$$pVDB
000138456 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2810728$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b28$$kDZNE
000138456 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2320009$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b32$$kDZNE
000138456 9101_ $$0I:(DE-588)1065079516$$6P:(DE-2719)2811891$$aDeutsches Zentrum für Neurodegenerative Erkrankungen$$b37$$kDZNE
000138456 9131_ $$0G:(DE-HGF)POF3-345$$1G:(DE-HGF)POF3-340$$2G:(DE-HGF)POF3-300$$3G:(DE-HGF)POF3$$4G:(DE-HGF)POF$$aDE-HGF$$bGesundheit$$lErkrankungen des Nervensystems$$vPopulation Studies and Genetics$$x0
000138456 9141_ $$y2016
000138456 915__ $$0StatID:(DE-HGF)0200$$2StatID$$aDBCoverage$$bSCOPUS
000138456 915__ $$0StatID:(DE-HGF)0300$$2StatID$$aDBCoverage$$bMedline
000138456 915__ $$0StatID:(DE-HGF)0310$$2StatID$$aDBCoverage$$bNCBI Molecular Biology Database
000138456 915__ $$0StatID:(DE-HGF)0320$$2StatID$$aDBCoverage$$bPubMed Central
000138456 915__ $$0StatID:(DE-HGF)0100$$2StatID$$aJCR$$bAM J HUM GENET : 2017
000138456 915__ $$0StatID:(DE-HGF)0600$$2StatID$$aDBCoverage$$bEbsco Academic Search
000138456 915__ $$0StatID:(DE-HGF)0030$$2StatID$$aPeer Review$$bASC
000138456 915__ $$0StatID:(DE-HGF)0199$$2StatID$$aDBCoverage$$bClarivate Analytics Master Journal List
000138456 915__ $$0StatID:(DE-HGF)0110$$2StatID$$aWoS$$bScience Citation Index
000138456 915__ $$0StatID:(DE-HGF)0150$$2StatID$$aDBCoverage$$bWeb of Science Core Collection
000138456 915__ $$0StatID:(DE-HGF)0111$$2StatID$$aWoS$$bScience Citation Index Expanded
000138456 915__ $$0StatID:(DE-HGF)1110$$2StatID$$aDBCoverage$$bCurrent Contents - Clinical Medicine
000138456 915__ $$0StatID:(DE-HGF)1030$$2StatID$$aDBCoverage$$bCurrent Contents - Life Sciences
000138456 915__ $$0StatID:(DE-HGF)1050$$2StatID$$aDBCoverage$$bBIOSIS Previews
000138456 915__ $$0StatID:(DE-HGF)9905$$2StatID$$aIF >= 5$$bAM J HUM GENET : 2017
000138456 9201_ $$0I:(DE-2719)1210002$$kAG Heutink$$lGenome Biology of Neurodegenerative Diseases$$x0
000138456 9201_ $$0I:(DE-2719)1210000$$kAG Gasser$$lParkinson Genetics$$x1
000138456 980__ $$ajournal
000138456 980__ $$aVDB
000138456 980__ $$aI:(DE-2719)1210002
000138456 980__ $$aI:(DE-2719)1210000
000138456 980__ $$aUNRESTRICTED