| 1 | MLASA2, YARS2 |
| A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. | |
| Ardissone A, Lamantea E, Quartararo J, Dallabona C, Carrara F, Moroni I, Donnini C, Garavaglia B, Zeviani M, Uziel G. | |
| JIMD Rep 20:95-101. doi: 10.1007/8904_2014_397. Epub 2015 Feb 1. 2015 | |
| 2 | MLASA2, YARS2 |
| A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. | |
| Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N. | |
| J Hum Genet 59(4):229-32. doi: 10.1038/jhg.2013.143. Epub 2014 Jan 16. 2014 | |
| 3 | YARS2, mLASA2 |
| A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations. | |
| Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S. | |
| Am J Med Genet A 161A(9):2334-8. doi: 10.1002/ajmg.a.36065. Epub 2013 Aug 5. 2013 | |
| 4 | MLASA2, YARS2 |
| A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia. | |
| Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. | |
| Hum Mutat 33(8):1201-6. doi: 10.1002/humu.22098. Epub 2012 May 7. 2012 | |
| 5 | MLASA2, YARS2 |
| Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. | |
| Riley LG, Cooper S, Hickey P, Rudinger-Thirion J, McKenzie M, Compton A, Lim SC, Thorburn D, Ryan MT, Giegé R, Bahlo M, Christodoulou J. | |
| Am J Hum Genet 87(1):52-9.PMID: 20598274 2010 | |
| 6 | YARS2 |
| Human mitochondrial TyrRS disobeys the tyrosine identity rules. | |
| Bonnefond L, Frugier M, Giegé R, Rudinger-Thirion J. | |
| RNA 11(5):558-62.PMID: 15840810 2005 | |
| 7 | ADIPOR1, AIG1, AMDHD2, ANKHD1, ANKRD20A1, ANKRD27, ANKRD32, APH1A, APH1B, APIP, APOLD1, ARS2, ASCC1, ATXN10, BOLA1, C10orf10, C14orf166, C19orf56, C20orf109, C20orf4, C2orf14, C2orf16, C6orf60, C6orf62, CALCOCO1, CAMKK1, CCDC113, CCDC53, CCDC9, CCNB2, CD99L2, CDK5RAP1, CDK5RAP1, CGI-96, CHMP5, CHPF, CIAO2B, CLIC4, CLPB, COPZ1, COQ4, COQ6, CRELD1, CUTC, CYBRD1, DDX47, DERA, DHRS7, DHRS7B, DHRS7B, DPH5, DTNB, DYNC1LI2, EEF1AKNMT, ELOVL1, EMC9, ERGIC3, ESPN, EXOSC1, EXOSC3, FAHD2A, FAM108B1, FAM18B, FAM32A, FAM82B, FCF1, FIP1L1, FLYWCH1, FYTTD1, GABARAPL1, GET4, GLOD4, GLRX2, GOLT1B, GOLT1B, GPR89A, GPS2, GRIPAP1, HDDC2, HDGFRP3, HIGD1A, IER3IP1, IFT52, ISOC1, KIF18A, KIF20B, KIRREL2, KL3, KLC2, LACTB2, LHX6, LMAN2L, LUC7L2, MAF1, MAGMAS, MECR, MED23, MED31, MEMO, METTL9, MIS12, MOABHD5, MOB4, MPC1, MRPL11, MRPL2, MRPL4, MRPL48, MRPS15, MRPS16, MRPS16P2, MRPS18C, MRPS23, MRPS33, MTCH1, MTERF3, MTO1, MYCBPAP, NCALD, NCIE2, NDUFAF1, NELF, NELFB, NFU1, NMD3, NOSIP, NRBF2, NRIP2, NRIP2, NRSN2, NUDT12, OTUD6B, PARVB, PCBD2, PHF20L1, PIGT, PMFBP1, PNAS-4, PRPF31, PRSS23, PTRH2, QRSL1, RBMX2, RGMA, RGMB, RNF103-CHMP3, RNF123, RNF146, RRNAD1, RRP15, RWDD1, RWDD3, SAMHD1, SAMM50, SCCPDH, SECISBP2, SEMA4F, SERBP1, SERBP1, SERP1, SH3BP5L, SIDT2, SLC25A24, SLC25A39, SLC35C2, SLC37A3, SLC41A2, SLC6A16, SLMO2, SMC6, SPEF1, SQRDL, STARD10, STMN2, SYF2, TARDBP, TBC1D3, TBL2, TFB1M, TFIP11, THAP4, THAP4, TIGD6, TIMMDC1, TMED5, TMED7, TMEM47, TPPP3, TRAF7, TRAPPC12, TRAPPC4, TRMT6, TRNT1, TSC22D3, TSPAN14, TWF2, UBE1DC1, UBE2J1, UCHL5, UNC50, USP39, UTP11L, VPS36, WDR37, WDR50, WDR91, WSB1, YARS2, YIPF3, YPEL5, ZC2HC1A, ZC3H13, ZDHHC9, ZMYND12, ZMYND15, ZRANB3 |
| Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. | |
| Lai CH, Chou CY, Ch'ang LY, Liu CS, Lin W. | |
| Genome Res 10(5):703-13. 2000 | |