Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy

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 earl...

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Veröffentlicht in:Am J Hum Genet
Hauptverfasser: Lesage, Suzanne, Drouet, Valérie, Majounie, Elisa, Deramecourt, Vincent, Jacoupy, Maxime, Nicolas, Aude, Cormier-Dequaire, Florence, Hassoun, Sidi Mohamed, Pujol, Claire, Ciura, Sorana, Erpapazoglou, Zoi, Usenko, Tatiana, Maurage, Claude-Alain, Sahbatou, Mourad, Liebau, Stefan, Ding, Jinhui, Bilgic, Basar, Emre, Murat, Erginel-Unaltuna, Nihan, Guven, Gamze, Tison, François, Tranchant, Christine, Vidailhet, Marie, Corvol, Jean-Christophe, Krack, Paul, Leutenegger, Anne-Louise, Nalls, Michael A., Hernandez, Dena G., Heutink, Peter, Gibbs, J. Raphael, Hardy, John, Wood, Nicholas W., Gasser, Thomas, Durr, Alexandra, Deleuze, Jean-François, Tazir, Meriem, Destée, Alain, Lohmann, Ebba, Kabashi, Edor, Singleton, Andrew, Corti, Olga, Brice, Alexis
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4800038/
https://ncbi.nlm.nih.gov/pubmed/26942284
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.01.014
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