Citations for
1AARS2, 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
2AARS2, 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
3AARS2, 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
4AARS2, 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
5AARS2, 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
6AARS2
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
7AARS2, 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