Citations for
1EIEE94, FARS2
FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.
Cho JS, Kim SH, Kim HY, Chung T, Kim D, Jang S, Lee SB, Yoo SK, Shin J, Kim JI, Kim H, Hwang H, Chae JH, Choi J, Kim KJ, Lim BC.
Epilepsy Res 129:118-124. doi: 10.1016/j.eplepsyres.2016.11.022. Epub 2016 Dec 2. 2017
2COXPD14, FARS2
Clinical findings in a patient with FARS2 mutations and early-infantile-encephalopathy with epilepsy.
Raviglione F, Conte G, Ghezzi D, Parazzini C, Righini A, Vergaro R, Legati A, Spaccini L, Gasperini S, Garavaglia B, Mastrangelo M.
Am J Med Genet A 170(11):3004-3007. doi: 10.1002/ajmg.a.37836. Epub 2016 Aug 23. 2016
3FARS2, SPG77
A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.
Yang Y, Liu W, Fang Z, Shi J, Che F, He C, Yao L, Wang E, Wu Y.
Hum Mutat 37(2):165-9. doi: 10.1002/humu.22930. Epub 2015 Dec 10. 2016
4COXPD14, FARS2
Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings.
Vernon HJ, McClellan R, Batista DA, Naidu S.
Am J Med Genet A 167A(5):1147-51. doi: 10.1002/ajmg.a.36993. Epub 2015 Apr 6. 2015
5COXPD14, FARS2
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency.
Almalki A, Alston CL, Parker A, Simonic I, Mehta SG, He L, Reza M, Oliveira JM, Lightowlers RN, McFarland R, Taylor RW, Chrzanowska-Lightowlers ZM.
Biochim Biophys Acta 1842(1):56-64. doi: 10.1016/j.bbadis.2013.10.008. Epub 2013 Oct 24. 2014
6COXPD14, FARS2
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Elo JM, Yadavalli SS, Euro L, Isohanni P, Götz A, Carroll CJ, Valanne L, Alkuraya FS, Uusimaa J, Paetau A, Caruso EM, Pihko H, Ibba M, Tyynismaa H, Suomalainen A.
Hum Mol Genet 21(20):4521-9. Epub 2012 Jul 23. 2012
7FARS2
Mitochondrial aminoacyl-tRNA synthetase single-nucleotide polymorphisms that lead to defects in refolding but not aminoacylation.
Banerjee R, Reynolds NM, Yadavalli SS, Rice C, Roy H, Banerjee P, Alexander RW, Ibba M.
J Mol Biol 410(2):280-93. doi: 10.1016/j.jmb.2011.05.011. Epub 2011 May 13. 2011
8FARS2
Large-scale movement of functional domains facilitates aminoacylation by human mitochondrial phenylalanyl-tRNA synthetase.
Yadavalli SS, Klipcan L, Zozulya A, Banerjee R, Svergun D, Safro M, Ibba M.
FEBS Lett 583(19):3204-8. doi: 10.1016/j.febslet.2009.09.008. Epub 2009 Sep 6. 2009
9FARS2
Eukaryotic cytosolic and mitochondrial phenylalanyl-tRNA synthetases catalyze the charging of tRNA with the meta-tyrosine.
Klipcan L, Moor N, Kessler N, Safro MG.
Proc Natl Acad Sci U S A 106(27):11045-8. doi: 10.1073/pnas.0905212106. Epub 2009 Jun 22. 2009
10FARS2
The tRNA-induced conformational activation of human mitochondrial phenylalanyl-tRNA synthetase.
Klipcan L, Levin I, Kessler N, Moor N, Finarov I, Safro M.
Structure 16(7):1095-104. doi: 10.1016/j.str.2008.03.020. 2008
11FARS2
Purification, crystallization and preliminary X-ray characterization of a human mitochondrial phenylalanyl-tRNA synthetase.
Levin I, Kessler N, Moor N, Klipcan L, Koc E, Templeton P, Spremulli L, Safro M.
Acta Crystallogr Sect F Struct Biol Cryst Commun 63(Pt 9):761-4. Epub 2007 Aug 25. 2007
12FARS2
Expression and characterization of a human mitochondrial phenylalanyl-tRNA synthetase.
Bullard JM, Cai YC, Demeler B, Spremulli LL.
J Mol Biol 288(4):567-77. 1999