PMC Links for Gene (Select 287126) - PMC

Select item 55443911.

Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome

Nicole J. Lake, Bryn D. Webb, David A. Stroud, Tara R. Richman, Benedetta Ruzzenente, Alison G. Compton, Hayley S. Mountford, Juliette Pulman, Coralie Zangarelli, Marlene Rio, Nathalie Bodaert, Zahra Assouline, Mingma D. Sherpa, Eric E. Schadt, Sander M. Houten, James Byrnes, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Katrina Haude, Zhancheng Zhang, Kyle Retterer, Renkui Bai, Sarah E. Calvo, Vamsi K. Mootha, John Christodoulou, Agnes Rötig, Aleksandra Filipovska, Ingrid Cristian, Marni J. Falk, Metodi D. Metodiev, David R. Thorburn

Am J Hum Genet. 2017 Aug 3; 101(2): 239–254. Published online 2017 Aug 3. doi: 10.1016/j.ajhg.2017.07.005

Correction in:: Am J Hum Genet. 2018 Apr 5; 102(4): 713.

PMCID:: PMC5544391

Abstract Article PDF–2.8M

Select item 43766782.

Mutation in MRPS34 Compromises Protein Synthesis and Causes Mitochondrial Dysfunction

Tara R. Richman, Judith A. Ermer, Stefan M. K. Davies, Kara L. Perks, Helena M. Viola, Anne-Marie J. Shearwood, Livia C. Hool, Oliver Rackham, Aleksandra Filipovska

PLoS Genet. 2015 Mar; 11(3): e1005089. Published online 2015 Mar 27. doi: 10.1371/journal.pgen.1005089

PMCID:: PMC4376678

Abstract Article PDF–18M

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 31780594.

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

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