Article
Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.
American journal of human genetics - 3 Mar 2016
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
Abstract excerpt
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...
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