| 1 | MARS2 |
| 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 | |
| 2 | MARS2 |
| 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 | |
| 3 | MARS2, 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 | |
| 4 | MARS2 |
| Characterization of the human mitochondrial methionyl-tRNA synthetase. | |
| Spencer AC, Heck A, Takeuchi N, Watanabe K, Spremulli LL. | |
| Biochemistry 43(30):9743-54. 2004 | |