PMC Links for GEO Profiles (Select 46567565) - PMC

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Items: 4

Select item 59852811.

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies

Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, Daniela Karall, Sergio Guerrero-Castillo, Daisy Dalloyaux, Mariël van den Brand, Sanne van Kraaij, Ellyze van Asbeck, Zahra Assouline, Marlene Rio, Pascale de Lonlay, Sabine Scholl-Buergi, David F.G.J. Wolthuis, Alexander Hoischen, Richard J. Rodenburg, Wolfgang Sperl, Zsolt Urban, Ulrich Brandt, Johannes A. Mayr, Sunnie Wong, Arjan P.M. de Brouwer, Leo Nijtmans, Arnold Munnich, Agnès Rötig, Ron A. Wevers, Metodi D. Metodiev, Eva Morava

Am J Hum Genet. 2018 Apr 5; 102(4): 685–695. Published online 2018 Mar 22. doi: 10.1016/j.ajhg.2018.02.012

PMCID:: PMC5985281

Abstract Article PDF–2.6M

Select item 45014312.

The structure of the human mitochondrial ribosome

Alexey Amunts, Alan Brown, Jaan Toots, Sjors H. W. Scheres, V. Ramakrishnan

Science. Author manuscript; available in PMC 2015 Oct 3.

Published in final edited form as: Science. 2015 Apr 3; 348(6230): 95–98. Published online 2015 Apr 2. doi: 10.1126/science.aaa1193

PMCID:: PMC4501431

Abstract Article PDF–1.7M

Select item 31780593.

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 27788444.

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