Citations for
1MARS2
Novel, Compound Heterozygous, Single-Nucleotide Variants in MARS2 Associated with Developmental Delay, Poor Growth, and Sensorineural Hearing Loss.
Webb BD, Wheeler PG, Hagen JJ, Cohen N, Linderman MD, Diaz GA, Naidich TP, Rodenburg RJ, Houten SM, Schadt EE.
Hum Mutat 36(6):587-592. doi: 10.1002/humu.22781. Epub 2015 Apr 8. 2015
2MARS2
A Mitochondrial Translation Defect Identified by Whole-Exome Sequencing Expands the Phenotypic Spectrum for MARS2.
Wangler M, Bayat V, Bellen H.
Hum Mutat 36(6):iii. doi: 10.1002/humu.22811. No abstract available. 2015
3MARS2, SPAX3
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans.
Bayat V, Thiffault I, Jaiswal M, Tétreault M, Donti T, Sasarman F, Bernard G, Demers-Lamarche J, Dicaire MJ, Mathieu J, Vanasse M, Bouchard JP, Rioux MF, Lourenco CM, Li Z, Haueter C, Shoubridge EA, Graham BH, Brais B, Bellen HJ.
PLoS Biol 10(3):e1001288. doi: 10.1371/journal.pbio.1001288. Epub 2012 Mar 20. 2012
4MARS2
Characterization of the human mitochondrial methionyl-tRNA synthetase.
Spencer AC, Heck A, Takeuchi N, Watanabe K, Spremulli LL.
Biochemistry 43(30):9743-54. 2004