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Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency.
Charlotte L Alston, Juliana Heidler, Marris G Dibley, Laura S Kremer, Lucie S Taylor, Carl Fratter, Courtney E French, Ruth IC Glasgow, René G Feichtinger, Isabelle Delon, Alistair T Pagnamenta, Helen Dolling, Hugh Lemonde, Neil Aiton, Alf Bjørnstad, Lisa Henneke, Jutta Gärtner, Holger Thiele, Katerina Tauchmannova, Gerardine Quaghebeur, Josef Houstek, Wolfgang Sperl, F Lucy Raymond, Holger Prokisch, Johannes A Mayr, Robert McFarland, Joanna Poulton, Michael T Ryan, Ilka Wittig, Marco Henneke, Robert W Taylor
May 21, 2019
Isolated complex I deficiency is a common biochemical phenotype observed in pediatric mitochondrial disease and often arises as a consequence of pathogenic variants affecting one of the ∼65 genes encoding the complex I...
Loss of COX4I1 Leads to Combined Respiratory Chain Deficiency and Impaired Mitochondrial Protein Synthesis.
Kristýna Čunátová, David Pajuelo Reguera, Marek Vrbacký, Erika Fernández-Vizarra, ShuJing Ding, Ian M Fearnley, Massimo Zeviani, Josef Houštěk, Tomáš Mráček, Petr Pecina
Feb 11, 2021
Cox COX4 OXPHOS biogenesis interdependency CI cIV cIV assembly Complex I complexome profiling knock-out Mitochondria mitochondrial protein synthesis Electron Transport Complex IV Glycolysis HEK293 Cells Humans Mitochondrial Diseases Mitochondrial Proteins Oxidative Phosphorylation Oxygen Consumption Protein Biosynthesis Protein Subunits