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@ARTICLE{Lesage:138456,
      author       = {Lesage, Suzanne and Drouet, Valérie and Majounie, Elisa
                      and Deramecourt, Vincent and Jacoupy, Maxime and Nicolas,
                      Aude and Cormier-Dequaire, Florence and Hassoun, Sidi
                      Mohamed and Pujol, Claire and Ciura, Sorana and
                      Erpapazoglou, Zoi and Usenko, Tatiana and Maurage,
                      Claude-Alain and Sahbatou, Mourad and Liebau, Stefan and
                      Ding, Jinhui and Bilgic, Basar and Emre, Murat and
                      Erginel-Unaltuna, Nihan and Guven, Gamze and Tison,
                      François and Tranchant, Christine and Vidailhet, Marie and
                      Corvol, Jean-Christophe and Krack, Paul and Leutenegger,
                      Anne-Louise and Nalls, Michael A and Hernandez, Dena G and
                      Heutink, Peter and Gibbs, J Raphael and Hardy, John and
                      Wood, Nicholas W and Gasser, Thomas and Durr, Alexandra and
                      Deleuze, Jean-François and Tazir, Meriem and Destée, Alain
                      and Lohmann, Ebba and Kabashi, Edor and Singleton, Andrew
                      and Corti, Olga and Brice, Alexis and Study, French
                      Parkinson's Disease Genetics and Consortium, International
                      Parkinson's Disease Genomics and Lesage, Suzanne and Tison,
                      François and Vidailhet, Marie and Corvol, Jean-Christophe
                      and Agid, Yves and Anheim, Mathieu and Bonnet, Anne-Marie
                      and Borg, Michel and Broussolle, Emmanuel and Damier,
                      Philippe and Destée, Alain and Durif, Franck and Krack,
                      Paul and Klebe, Stephan and Martinez, Maria and Pollak,
                      Pierre and Rascol, Olivier and Tranchant, Christine and
                      Vérin, Marc and Viallet, François and Brice, Alexis and
                      Lesage, Suzanne and Majounie, Elisa and Tison, François and
                      Vidailhet, Marie and Corvol, Jean Christophe and Nalls,
                      Michael A and Gibbs, J Raphael and Arepalli, Sampath and
                      Barker, Roger A and Bettella, Francesco and Bhatia, Kailash
                      and de Bie, Rob M A and Biffi, Alessandro and Bloem,
                      Bastiaan R and Bochdanovits, Zoltan and Bonin, Michael and
                      Lesage, Suzanne and Tison, François and Vidailhet, Marie
                      and Corvol, Jean-Christophe and Agid, Yves and Anheim,
                      Mathieu and Bonnet, Anne-Marie and Borg, Michel and
                      Broussolle, Emmanuel and Damier, Philippe and Destée, Alain
                      and Durif, Franck and Krack, Paul and Klebe, Stephan and
                      Martinez, Maria and Pollak, Pierre and Rascol, Olivier and
                      Tranchant, Christine and Vérin, Marc and Bras, Jose M and
                      Brooks, Janet and Burn, David J and Charlesworth, Gavin and
                      Chen, Honglei and Chinnery, Patrick F and Chong, Sean and
                      Clarke, Carl E and Cookson, Mark R and Counsell, Carl and
                      Damier, Philippe and Dartigues, Jean-François and Deloukas,
                      Panos and Deuschl, Günther and Dexter, David T and van
                      Dijk, Karin D and Dillman, Allissa and Dong, Jing and Durif,
                      Frank and Edkins, Sarah and Escott-Price, Valentina and
                      Evans, Jonathan R and Foltynie, Thomas and Gao, Jianjun and
                      Gardner, Michelle and Goate, Alison and Gray, Emma and
                      Guerreiro, Rita and Harris, Clare and van Hilten, Jacobus J
                      and Hofman, Albert and Hollenbeck, Albert and Holmans, Peter
                      and Holton, Janice and Hu, Michèle and Huang, Xuemei and
                      Hudson, Gavin and Hunt, Sarah E and Huttenlocher, Johanna
                      and Illig, Thomas and Jónsson, Pálmi V and Kilarski, Laura
                      L and Lambert, Jean-Charles and Langford, Cordelia and Lees,
                      Andrew and Lichtner, Peter and Limousin, Patricia and Lopez,
                      Grisel and Lorenz, Delia and Lubbe, Steven and Lungu, Codrin
                      and Martinez, María and Mätzler, Walter and McNeill,
                      Alisdair and Moorby, Catriona and Moore, Matthew and
                      Morrison, Karen E and Mudanohwo, Ese and O'Sullivan, Sean S
                      and Owen, Michael J and Pearson, Justin and Perlmutter, Joel
                      S and Pétursson, Hjörvar and Plagnol, Vincent and Pollak,
                      Pierre and Post, Bart and Potter, Simon and Ravina, Bernard
                      and Revesz, Tamas and Riess, Olaf and Rivadeneira, Fernando
                      and Ryten, Mina and Saad, Mohamad and Simón-Sánchez,
                      Javier and Sawcer, Stephen and Schapira, Anthony and
                      Scheffer, Hans and Shaw, Karen and Sheerin, Una-Marie and
                      Shoulson, Ira and Shulman, Joshua and Sidransky, Ellen and
                      Spencer, Chris C A and Stefánsson, Hreinn and Stefánsson,
                      Kári and Stockton, Joanna D and Strange, Amy and Talbot,
                      Kevin and Tanner, Carlie M and Tashakkori-Ghanbaria, Avazeh
                      and Trabzuni, Daniah and Traynor, Bryan J and Uitterlinden,
                      André G and Velseboer, Daan and Walker, Robert and van de
                      Warrenburg, Bart and Wickremaratchi, Mirdhu and
                      Williams-Gray, Caroline H and Winder-Rhodes, Sophie and
                      Williams, Nigel and Morris, Huw R and Hardy, John and Wood,
                      Nicholas W and Singleton, Andrew B and Brice, Alexis},
      title        = {{L}oss of {VPS}13{C} {F}unction in {A}utosomal-{R}ecessive
                      {P}arkinsonism {C}auses {M}itochondrial {D}ysfunction and
                      {I}ncreases {PINK}1/{P}arkin-{D}ependent {M}itophagy.},
      journal      = {The American journal of human genetics},
      volume       = {98},
      number       = {3},
      issn         = {0002-9297},
      address      = {New York, NY},
      publisher    = {Elsevier},
      reportid     = {DZNE-2020-04778},
      pages        = {500-513},
      year         = {2016},
      abstract     = {Autosomal-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.},
      keywords     = {Adult / Aged / Animals / COS Cells / Case-Control Studies /
                      Consanguinity / Female / Gene Silencing / Genetic
                      Heterogeneity / HEK293 Cells / Heterozygote / Homozygote /
                      Humans / Male / Middle Aged / Mitophagy: genetics /
                      Parkinsonian Disorders: diagnosis / Parkinsonian Disorders:
                      genetics / Pedigree / Phenotype / Protein Kinases: genetics
                      / Protein Kinases: metabolism / Proteins: genetics /
                      Proteins: metabolism / Reproducibility of Results / Turkey /
                      Ubiquitin-Protein Ligases: genetics / Ubiquitin-Protein
                      Ligases: metabolism / Proteins (NLM Chemicals) / VPS13C
                      protein, human (NLM Chemicals) / Ubiquitin-Protein Ligases
                      (NLM Chemicals) / parkin protein (NLM Chemicals) / Protein
                      Kinases (NLM Chemicals) / PTEN-induced putative kinase (NLM
                      Chemicals)},
      cin          = {AG Heutink / AG Gasser},
      ddc          = {570},
      cid          = {I:(DE-2719)1210002 / I:(DE-2719)1210000},
      pnm          = {345 - Population Studies and Genetics (POF3-345)},
      pid          = {G:(DE-HGF)POF3-345},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:26942284},
      pmc          = {pmc:PMC4800038},
      doi          = {10.1016/j.ajhg.2016.01.014},
      url          = {https://pub.dzne.de/record/138456},
}