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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 mitochondrial DNA mutation.
Jiang P, Jin X, Peng Y, Wang M, Liu H, Liu X, Zhang Z, Ji Y, Zhang J, Liang M, Zhao F, Sun YH, Zhang M, Zhou X, Chen Y, Mo JQ, Huang T, Qu J, Guan MX. Jiang P, et al. Among authors: jin x. Hum Mol Genet. 2016 Feb 1;25(3):584-96. doi: 10.1093/hmg/ddv498. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647310
Loss of MED1 triggers mitochondrial biogenesis in C2C12 cells.
Yu J, Xiao Y, Liu J, Ji Y, Liu H, Xu J, Jin X, Liu L, Guan MX, Jiang P. Yu J, et al. Among authors: jin x. Mitochondrion. 2014 Jan;14(1):18-25. doi: 10.1016/j.mito.2013.12.004. Epub 2013 Dec 22. Mitochondrion. 2014. PMID: 24368311
PRICKLE3 linked to ATPase biogenesis manifested Leber's hereditary optic neuropathy.
Yu J, Liang X, Ji Y, Ai C, Liu J, Zhu L, Nie Z, Jin X, Wang C, Zhang J, Zhao F, Mei S, Zhao X, Zhou X, Zhang M, Wang M, Huang T, Jiang P, Guan MX. Yu J, et al. Among authors: jin x. J Clin Invest. 2020 Sep 1;130(9):4935-4946. doi: 10.1172/JCI134965. J Clin Invest. 2020. PMID: 32516135 Free PMC article.
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