PMC Links for Nucleotide (Select 1700716535) - PMC

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 32296413.

Image-Based Genome-Wide siRNA Screen Identifies Selective Autophagy Factors

Anthony Orvedahl, Rhea Sumpter, Jr., Guanghua Xiao, Aylwin Ng, Zhongju Zou, Yi Tang, Masahiro Narimatsu, Christopher Gilpin, Qihua Sun, Michael Roth, Christian V. Forst, Jeffrey L. Wrana, Ying E. Zhang, Katherine Luby-Phelps, Ramnik Xavier, Yang Xie, Beth Levine

Nature. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Nature. 2011 Dec 1; 480(7375): 113–117. doi: 10.1038/nature10546

PMCID:: PMC3229641

Abstract Article PDF–2.3M

Select item 29434764.

Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression

Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien

PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862

PMCID:: PMC2943476

Abstract Article PDF–461K

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