PMC Links for Protein (Select 296452944) - PMC

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Items: 4

Select item 43736921.

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

Mariella Simon, Elodie M. Richard, Xinjian Wang, Mohsin Shahzad, Vincent H. Huang, Tanveer A. Qaiser, Prasanth Potluri, Sarah E. Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-sheqaih, William G. Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N. Khan, Ronghua Li, Min-Xin Guan, Thomas B. Friedman, Doris K. Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C. Wallace, Zubair M. Ahmed, Taosheng Huang, Saima Riazuddin

PLoS Genet. 2015 Mar; 11(3): e1005097. Published online 2015 Mar 25. doi: 10.1371/journal.pgen.1005097

PMCID:: PMC4373692

Abstract Article PDF–1.8M

Select item 42997152.

Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome

Kalliopi Sofou, Gittan Kollberg, Maria Holmström, Marcela Dávila, Niklas Darin, Claes M Gustafsson, Elisabeth Holme, Anders Oldfors, Már Tulinius, Jorge Asin-Cayuela

Mol Genet Genomic Med. 2015 Jan; 3(1): 59–68. Published online 2014 Oct 23. doi: 10.1002/mgg3.115

PMCID:: PMC4299715

Abstract Article PDF–2.2M

Select item 30395703.

Initial characterization of the human central proteome

Thomas R Burkard, Melanie Planyavsky, Ines Kaupe, Florian P Breitwieser, Tilmann Bürckstümmer, Keiryn L Bennett, Giulio Superti-Furga, Jacques Colinge

BMC Syst Biol. 2011; 5: 17. Published online 2011 Jan 26. doi: 10.1186/1752-0509-5-17