PMC Links for GEO Profiles (Select 71267210) - PMC

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Items: 5

Select item 37482391.

The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress

Julia S. Schlehe, Marion S.M. Journel, Kelsey P. Taylor, Katherine D. Amodeo, Matthew J. LaVoie

Neurobiol Dis. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Neurobiol Dis. 2013 Oct; 58: 57–67. Published online 2013 May 20. doi: 10.1016/j.nbd.2013.05.007

PMCID:: PMC3748239

Abstract Article PDF–3.8M

Select item 31780592.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 27788443.

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

PMCID:: PMC2778844

Abstract Article PDF–1.2M

Select item 26949784.

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Ann Saada, Rutger O. Vogel, Saskia J. Hoefs, Mariël A. van den Brand, Hans J. Wessels, Peter H. Willems, Hanka Venselaar, Avraham Shaag, Flora Barghuti, Orit Reish, Mordechai Shohat, Martijn A. Huynen, Jan A.M. Smeitink, Lambert P. van den Heuvel, Leo G. Nijtmans

Am J Hum Genet. 2009 Jun 12; 84(6): 718–727. doi: 10.1016/j.ajhg.2009.04.020