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JCI Insight
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November 19, 2024
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy
Chenghui Wang, Liyao Zhang, Zhipeng Nie, et al.
The Journal of Biological Chemistry
|
July 30, 2020
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Yanchun Ji, Juanjuan Zhang, Yuanyuan Lu, et al.
The Journal of Biological Chemistry
|
May 23, 2021
Mechanistic insights into mitochondrial tRNA<sup>Ala</sup> 3'-end metabolism deficiency
Yanchun Ji, Zhipeng Nie, Feilong Meng, et al.
Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis
|
May 10, 2016
Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees
Shipeng Xie, Juanjuan Zhang, Jiji Sun, et al.
Nucleic Acids Research
|
August 26, 2022
Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro
Zidong Jia, Feilong Meng, Hui Chen, et al.
Human Molecular Genetics
|
July 19, 2016
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Pingping Jiang, Min Liang, Chaofan Zhang, et al.
Investigative Ophthalmology & Visual Science
|
May 12, 2012
Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families
Xiangtian Zhou, Yaping Qian, Juanjuan Zhang, et al.
Investigative Ophthalmology & Visual Science
|
May 14, 2016
Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy
Yanchun Ji, Min Liang, Juanjuan Zhang, et al.
Scientific Reports
|
July 20, 2017
A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis
Juanjuan Zhang, Xiaoling Liu, Xiaoyang Liang, et al.
The Journal of Biological Chemistry
|
July 10, 2025
Leber's hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis
Meiheriayi Yasheng, Yanchun Ji, Yunfan He, et al.
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of 5
Search research articles
Search
Showing results (31-40 of 48) with videos related to
Sort By:
Page
of 5
JCI Insight
|
November 19, 2024
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy
Chenghui Wang, Liyao Zhang, Zhipeng Nie, et al.
The Journal of Biological Chemistry
|
July 30, 2020
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Yanchun Ji, Juanjuan Zhang, Yuanyuan Lu, et al.
The Journal of Biological Chemistry
|
May 23, 2021
Mechanistic insights into mitochondrial tRNA<sup>Ala</sup> 3'-end metabolism deficiency
Yanchun Ji, Zhipeng Nie, Feilong Meng, et al.
Mitochondrial DNA. Part A, DNA Mapping, Sequencing, and Analysis
|
May 10, 2016
Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees
Shipeng Xie, Juanjuan Zhang, Jiji Sun, et al.
Nucleic Acids Research
|
August 26, 2022
Human TRUB1 is a highly conserved pseudouridine synthase responsible for the formation of Ψ55 in mitochondrial tRNAAsn, tRNAGln, tRNAGlu and tRNAPro
Zidong Jia, Feilong Meng, Hui Chen, et al.
Human Molecular Genetics
|
July 19, 2016
Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation
Pingping Jiang, Min Liang, Chaofan Zhang, et al.
Investigative Ophthalmology & Visual Science
|
May 12, 2012
Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chinese Families
Xiangtian Zhou, Yaping Qian, Juanjuan Zhang, et al.
Investigative Ophthalmology & Visual Science
|
May 14, 2016
Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy
Yanchun Ji, Min Liang, Juanjuan Zhang, et al.
Scientific Reports
|
July 20, 2017
A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis
Juanjuan Zhang, Xiaoling Liu, Xiaoyang Liang, et al.
The Journal of Biological Chemistry
|
July 10, 2025
Leber's hereditary optic neuropathy-associated ND1 3733G>C mutation ameliorates the mitochondrial quality control and cellular homeostasis
Meiheriayi Yasheng, Yanchun Ji, Yunfan He, et al.
Page
of 5