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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. (2020) PRICKLE3 Linked to ATPase Biogenesis Manifested Leber's Hereditary Optic Neuropathy. J Clin Invest. 2020 Jun 9:134965. doi: 10.1172/JCI134965.
Gong S, Wang X, Meng F, Cui L, Yi Q, Zhao Q, Cang X, Cai Z, Mo JQ, Liang Y, Guan MX. (2020) Overexpression of mitochondrial histidyl-tRNA synthetase restores mitochondrial dysfunction caused by a deafness-associated tRNAHis mutation. J. Biol. Chem. 295(4):940-954.
Ji Y, Zhang J, Yu J, Wang Y, Lu Y, Liang M, Li Q, Jin X, Wei Y, Meng F, Gao Y, Cang X, Tong Y, Liu X, Zhang M, Jiang P, Zhu T, Mo JQ, Huang T, Jiang P, Guan MX*. (2019) Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy. Hum Mol Genet. 28(9):1515-1529.
Jia Z, Zhang Y, Li Q, Ye Z, Liu Y, Fu C, Cang X, Wang M, Guan MX*. (2019) A coronary artery disease-associated tRNAThr mutation altered mitochondrial function, apoptosis and angiogenesis. Nucleic Acids Res. 47(4):2056-2074.
Chen D, Zhang Z, Chen C, Yao S, Yang Q, Li F, He X, Ai C, Wang M, Guan MX*. (2019) Deletion of Gtpbp3 in zebrafish revealed the hypertrophic cardiomyopathy manifested by aberrant mitochondrial tRNA metabolism. Nucleic Acids Res. 47(10):5341-5355.
Zhao X, Cui L, Xiao Y, Mao Q, Aishanjiang M, Kong W, Liu Y, Chen H, Hong F, Jia Z, Wang M, Jiang P, Guan MX*. (2019) Hypertension-associated mitochondrial DNA 4401A>G mutation caused the aberrant processing of tRNAMet, all 8 tRNAs and ND6 mRNA in the light-strand transcript. Nucleic Acids Res. 47(19):10340-10356.
Xue L, Chen Y, Tang X, Yao J, Huang H, Wang M, Ye S, Wang M, Guan MX*. (2019) A deafness-associated mitochondrial DNA mutation altered the tRNASer(UCN) metabolism and mitochondrial function. Mitochondrion. 46:370-379.6）
Fan W, Zheng J, Kong W, Cui L, Aishanjiang M, Yi Q, Wang M, Cang, X, Tang X, Chen Y, Mo JQ, Sondheimer, Ge W, Guan MX* (2019) Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation. J. Biol. Chem. 294(50):19292-19305.
Zhang J, Ji Y, Liu X, Chen J, Wang B, Zhang M, Guan MX*. （2018） Leber's hereditary optic neuropathy caused by a mutation in mitochondrial tRNAThr in eight Chinese pedigrees. Mitochondrion. 42:84-91.
Meng F, He Z, Tang X, Zheng J, Jin X, Zhu Y, Ren X, Zhou M, Wang M, Gong S, Mo JQ, Shu Q, Guan MX*. (2018) Contribution of the tRNAIle 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation. J Biol Chem. 293(9):3321-3334.
Zhou M, Xue L, Chen Y, Li H, He Q, Wang B, Meng F, Wang M, Guan MX*. (2018）A hypertension-associated mitochondrial DNA mutation introduces an m1G37 modification into tRNAMet, altering its structure and function. J Biol Chem. 26;293(4):1425-1438.
Zhang J, Ji Y, Lu Y, Fu R, Xu M, Liu X, Guan MX*. (2018) Leber's hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy. Hum Mol Genet. 27(11):1999-2011.
Zhang Q, Zhang L, Chen D, He X, Yao S, Zhang Z, Chen Y, Guan MX*. Deletion of Mtu1 (Trmu) in zebrafish revealed the essential role of tRNA modification in mitochondrial biogenesis and hearing function. Nucleic Acids Res. 46(20):10930-10945
Meng F, Cang X, Peng Y, Li R, Zhang Z, Li F, Fan Q, Guan AS, Fischel-Ghosian N, Zhao X, Guan MX*. (2017) Biochemical evidence for a nuclear modifier allele (A10S) in TRMU (methylaminomethyl-2-thiouridylate-methyltransferase) related to mitochondrial tRNA modification in the phenotypic manifestation of deafness-associated 12S rRNA mutation. J. Biol. Chem. 292(7):2881-2892.
Zhou M, Wang M, Xue L, Lin Z, He Q, Shi W, Chen Y, Jin X, Li H, Jiang P, Guan MX* (2017) A hypertension-associated mitochondrial DNA mutation alters the tertiary interaction and function of tRNALeu(UUR). J. Biol. Chem. 292(34):13934-13946.
Zhang J, Liu X, Liang X, Lu Y, Zhu L, Fu R, Ji Y, Fan W, Chen J, Lin B, Yuan Y, Jiang P, Zhou X, Guan MX*. (2017) A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis. Sci Rep. 7 (1):5704
Chen X, Nie Z, Wang F, Wang J, Liu XW, Zheng J, Guo YF, Guan MX*. (2017) Late onset nonsyndromic hearing loss in a Dongxiang Chinese family is associated with the 593T>C variant in the mitochondrial tRNAPhe gene. Mitochondrion. 35:111-118.
Peng Y, Shinde DN, Valencia CA, Mo JS, Rosenfeld J, Truitt Cho M, Chamberlin A, Li Z, Liu J, Gui B, Brockhage R, Basinger A, Alvarez-Leon B, Heydemann P, Magoulas PL, Lewis AM, Scaglia F, Gril S, Chong SC, Bower M, Monaghan KG, Willaert R, Plona MR, Dineen R, Milan F, Hoganson G, Powis Z, Helbig KL, Keller-Ramey J, Harris B, Anderson LC, Green T, Sukoff Rizzo SJ, Kaylor J, Chen J, Guan MX, et al. (2017). Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. Hum Mol Genet. 26(24):4937-4950.
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, and Guan MX*. (2016) 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. Hum Mol Genet. 25(3):584-96.
Jiang P, Liang M, Zhang C, Zhao X1, He Q, Cui L, Liu X, Sun YH, Fu Q, Ji Y, Bai Y, Huang T, Guan MX* (2016) Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber’s hereditary optic neuropathy-associated mitochondrial DNA mutation. Hum. Mol. Genet. 25 (16):3613-3625.
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