PMC Links for Gene (Select 315167) - PMC

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Items: 3

Select item 61742801.

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 I.C. 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

Am J Hum Genet. 2018 Oct 4; 103(4): 592–601. Published online 2018 Sep 20. doi: 10.1016/j.ajhg.2018.08.013

PMCID:: PMC6174280

Abstract Article PDF–1.4M

Select item 27788442.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016