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YARS2 congenital sideroblastic anemia
References
1. Cartwright GE, Deiss A. Sideroblasts, side- rocytes, and sideroblastic anemia. N Engl J Med. 1975;292(4):185-193.
2. Bottomley SS, Fleming MD. Sideroblastic anemia: diagnosis and management. Hematol Oncol Clin North Am. 2014;28(4):653-700.
3. Fleming MD. Congenital sideroblastic ane- mias: iron and heme lost in mitochondrial translation. Hematology Am Soc Hematol Educ Program. 2011;2011:525-531.
4. Riley LG, Cooper S, Hickey P, et al. Mutation of the mitochondrial tyrosyl- tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome. Am J Hum Genet. 2010;87(1):52-59.
5. Riley LG, Menezes MJ, Rudinger-Thirion J, et al. Phenotypic variability and identifica- tion of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia. Orphanet J Rare Dis. 2013;8:193.
6. Sasarman F, Nishimura T, Thiffault I, Shoubridge EA. A novel mutation in YARS2 causes myopathy with lactic acido- sis and sideroblastic anemia. Hum Mut. 2012;33(8):1201-1206.
7. Nakajima J, Eminoglu TF, Vatansever G, et al. A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2. J Hum Genet. 2014;59(4):229-232.
8. Ardissone A, Lamantea E, Quartararo J, et al. A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature. JIMD Rep. 2015; 20:95-101.
9. Sommerville EW, Ng YS, Alston CL, et al. Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2- Related Mitochondrial Myopathy. JAMA Neurol. 2017;74(6):686-694.
10. BonnefondL,FenderA,Rudinger-ThirionJ, Giegé R, Florentz C, Sissler M. Toward the full set of human mitochondrial aminoacyl-
tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry. 2005;44(12):4805-4816.
11. Jiang P, Xiaofen J, Peng Y, et al. The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl- tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated DNA mutation. Hum Mol Genet. 2016;25(3):584-596.
12. Bergmann AK, Campagna DR, McLoughlin EM, et al. Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. Pediatr Blood Cancer. 2010;54(2):273-278.
13. Rusk N. Torrents of sequence. Nat Methods. 2011;8:44.
14. Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human mis- sense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;Chapter 7:Unit7. 20.
15. Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: pre- dicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 2012;40(Web Server issue):W452-457.
16. Lek M, Karczewski KJ, Minikel EV, et al. Analysis of protein-coding genetic varia- tion in 60,706 humans. Nature. 2016;536(7616):285-291.
17. Zeharia A, Fischel-Ghodsian N, Casas K, et al. Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. J Child Neurol. 2005;20(5):449-452.
18. Popp MW, Maquat LE. Leveraging rules of nonsense-mediated mRNA decay for genome engineering and personalized medicine. Cell. 2016;165(6):1319-1322.
19. Bonnefond L, Frugier M, Touzé E, et al. Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features. Structure.
2007;15(11):1505-1516.
20. Paukstelis P, Chari N, Lambowitz A,
Hoffman D. NMR structure of the C-ter- minal domain of a tyrosyl-tRNA syn- thetase that functions in group I intron splicing. Biochemistry. 2011;50(18):3816- 3826.
21. Oprescu SN, Griffin LB, Beg AA, Antonellis A. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods. 2017;113:139-151.
22. Shahni R, Wedatilake Y, Cleary MA, Lindley KJ, Sibson KR, Rahman S. A dis- tinct mitochondrial myopathy, lactic acido- sis and sideroblastic anemia (MLASA) phe- notype associates with YARS2 mutations. Am J Med Genet Part A. 2013;161a(9):2334-2338.
23. Dallabona C, Diodato D, Kevelam SH, et al. Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology. 2014; 82(23):2063-2071.
24. Pierce SB, Chisholm KM, Lynch ED, et al. Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgene- sis and sensorineural hearing loss of Perrault syndrome. Proc Natl Acad Sci USA. 2011;108(16):6543-6548.
25. Solda G, Caccia S, Robusto M, et al. First independent replication of the involvement of LARS2 in Perrault syndrome by whole- exome sequencing of an Italian family. J Hum Genet. 2016;61(4):295-300.
26. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
27. Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA). Am J Hum Genet. 2004;74(6):1303-1308.
28. Yang J, Yan R, Roy A, Xu D, Poisson J, Zhang Y. The I-TASSER Suite: Protein structure and function prediction. Nat Methods. 2015;12(1):7-8.
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