PMC Links for Gene (Select 362094) - 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 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