| 1 | AARS2, COXPD12, COXPD8, DARS2, EARS2, LBSL |
| Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination. | |
| Fine AS, Nemeth CL, Kaufman ML, Fatemi A. | |
| J Neurodev Disord. Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y 2019 | |
| 2 | AARS2, LKENP |
| AARS2-related ovarioleukodystrophy: Clinical and neuroimaging features of three new cases. | |
| Taglia I, Di Donato I, Bianchi S, Cerase A, Monti L, Marconi R, Orrico A, Rufa A, Federico A, Dotti MT. | |
| Acta Neurol Scand. Oct;138(4):278-283. doi: 10.1111/ane.12954. Epub 2018 May 10 2018 | |
| 3 | AARS2, COXPD8 |
| Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation. | |
| Euro L, Konovalova S, Asin-Cayuela J, Tulinius M, Griffin H, Horvath R, Taylor RW, Chinnery PF, Schara U, Thorburn DR, Suomalainen A, Chihade J, Tyynismaa H. | |
| Front Genet. Feb 6;6:21. doi: 10.3389/fgene.2015.00021. eCollection 2015 2015 | |
| 4 | AARS2, LKENP |
| Novel (ovario) leukodystrophy related to AARS2 mutations | |
| Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. | |
| Neurology Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7 2014 | |
| 5 | AARS2, COXPD8 |
| Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy. | |
| Götz A, Tyynismaa H, Euro L, Ellonen P, Hyötyläinen T, Ojala T, Hämäläinen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A. | |
| Am J Hum Genet 88(5):635-42. Epub 2011 May 5. 2011 | |
| 6 | AARS2 |
| Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. | |
| Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M. | |
| Biochemistry 44(12):4805-16. 2005 | |
| 7 | AARS2, ADAMTSL3, AHRR, AMIGO1, ANKFY1, ARHGAP31, ARID1A, ARID1B, ASAP1, ASB1, BACE1, BIRC6, BRPF3, C14orf118, CASKIN2, CCPG1, CD2BP2, CNOT6, COG6, CPAMD8, DCDC2, DLG3, ERBIN, ERGIC1, FAM190B, FAM63B, FBXO40, FILIP1, FSTL5, FZR1, GALNTL1, GATAD2B, GDA, GMEB2, GNPTAB, GRID1, GRIPAP1, HECTD1, HEG1, HHATL, INTU, IPO9, ISY1, KCNH3, KIAA1143, KIAA1191, KIAA1217, KIAA1274, LCHN, LMBR1L, LRFN2, LRRC47, MACF1, MAP7D1, MIER2, MTA3, MYO5B, MYOF, MYORG, NDFIP2, NDRG2, NELFB, NLGN4X, NLN, OGDHL, PAIP2B, PAK7, PECR, PLEKHG1, PLEKHH1, PNKD, PNMAL2, PPP1R9A, PRDM10, REXO1, RIMKLB, RNF150, SGPL1, SHROOM4, SLC39A10, SLC45A4, SRGAP2, STK36, SULF2, TBC1D24, TLE4, TMCC3, TPCN1, TRMT6, TTC7A, TTC7B, USP31, ZBTB21, ZBTB47, ZC4H2, ZNF490, ZNF644, ZNF777 |
| Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. | |
| Hirosawa M, Nagase T, Ishikawa K, Kikuno R, Nomura N, Ohara O. | |
| DNA Res 6(5):329-36. 1999 | |