1. Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, et al. Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. Am J Hum Genet. 2011; 88:635–642.
Article
2. Szpisjak L, Zsindely N, Engelhardt JI, Vecsei L, Kovacs GG, Klivenyi P. Novel
AARS2 gene mutation producing leukodystrophy: a case report. J Hum Genet. 2017; 62:329–333.
Article
3. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, et al. Novel (ovario) leukodystrophy related to
AARS2 mutations. Neurology. 2014; 82:2063–2071.
Article
4. Lynch DS, Zhang WJ, Lakshmanan R, Kinsella JA, Uzun GA, Karbay M, et al. Analysis of mutations in
AARS2 in a series of CSF1R-negative patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. JAMA Neurol. 2016; 73:1433–1439.
Article
5. Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, et al. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014; 312:68–77.
Article
6. Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, et al. Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (
AARS2) defects predicts differential effects on aminoacylation. Front Genet. 2015; 6:21.
Article