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Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study
Biousse, Valérie, Newman, Nancy J., Yu-Wai-Man, Patrick, Carelli, Valerio, Moster, Mark L., Vignal-Clermont, Catherine, Klopstock, Thomas, Sadun, Alfredo A., Sergott, Robert C., Hage, Rabih, Esposti, Simona, La Morgia, Chiara, Priglinger, Claudia, Karanja, Rustum, Blouin, Laure, Taiel, Magali, Sahel, José-Alain
Published in Journal of neuro-ophthalmology (01.09.2021)
Published in Journal of neuro-ophthalmology (01.09.2021)
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Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado–Joseph disease Patients
Chen, Sheng, Gan, Shi‐Rui, Cai, Ping‐Ping, Ni, Wang, Zhou, Qi, Dong, Yi, Wang, Ning, Wu, Zhi‐Ying
Published in CNS neuroscience & therapeutics (01.01.2016)
Published in CNS neuroscience & therapeutics (01.01.2016)
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Elevated levels of plasma mitochondrial DNA DAMPs are linked to clinical outcome in severely injured human subjects
Simmons, Jon D, Lee, Yann-Leei, Mulekar, Sujata, Kuck, Jamie L, Brevard, Sidney B, Gonzalez, Richard P, Gillespie, Mark N, Richards, William O
Published in Annals of surgery (01.10.2013)
Published in Annals of surgery (01.10.2013)
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The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity
Wang, Wenzhang, Wang, Luwen, Lu, Junjie, Siedlak, Sandra L, Fujioka, Hisashi, Liang, Jingjing, Jiang, Sirui, Ma, Xiaopin, Jiang, Zhen, da Rocha, Edroaldo Lummertz, Sheng, Max, Choi, Heewon, Lerou, Paul H, Li, Hu, Wang, Xinglong
Published in Nature medicine (01.08.2016)
Published in Nature medicine (01.08.2016)
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Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy
Ji, Yanchun, Liang, Min, Zhang, Juanjuan, Zhu, Ling, Zhang, Zengjun, Fu, Runing, Liu, Xiaoling, Zhang, Minglian, Fu, Qun, Zhao, Fuxin, Tong, Yi, Sun, Yanhong, Jiang, Pingping, Guan, Min-Xin
Published in Investigative ophthalmology & visual science (01.05.2016)
Published in Investigative ophthalmology & visual science (01.05.2016)
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Contribution of mitochondrial ND1 3394T>C mutation to the phenotypic manifestation of Leber's hereditary optic neuropathy
Ji, Yanchun, Zhang, Juanjuan, Yu, Jialing, Wang, Ying, Lu, Yuanyuan, Liang, Min, Li, Qiang, Jin, Xiaofen, Wei, Yinsheng, Meng, Feilong, Gao, Yinglong, Cang, Xiaohui, Tong, Yi, Liu, Xiaoling, Zhang, Minglian, Jiang, Peifang, Zhu, Tao, Mo, Jun Qin, Huang, Taosheng, Jiang, Pingping, Guan, Min-Xin
Published in Human molecular genetics (01.05.2019)
Published in Human molecular genetics (01.05.2019)
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Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy
Yu-Wai-Man, Patrick, Newman, Nancy J, Carelli, Valerio, Moster, Mark L, Biousse, Valerie, Sadun, Alfredo A, Klopstock, Thomas, Vignal-Clermont, Catherine, Sergott, Robert C, Rudolph, Günther, La Morgia, Chiara, Karanjia, Rustum, Taiel, Magali, Blouin, Laure, Burguière, Pierre, Smits, Gerard, Chevalier, Caroline, Masonson, Harvey, Salermo, Yordak, Katz, Barrett, Picaud, Serge, Calkins, David J, Sahel, José-Alain
Published in Science translational medicine (09.12.2020)
Published in Science translational medicine (09.12.2020)
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Leber Hereditary Optic Neuropathy Gene Therapy: Adverse Events and Visual Acuity Results of All Patient Groups
Lam, Byron L., Feuer, William J., Davis, Janet L., Porciatti, Vittorio, Yu, Hong, Levy, Robert B., Vanner, Elizabeth, Guy, John
Published in American journal of ophthalmology (01.09.2022)
Published in American journal of ophthalmology (01.09.2022)
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Discovery of Predictive Biomarkers for Litter Size in Boar Spermatozoa
Kwon, Woo-Sung, Rahman, Md Saidur, Lee, June-Sub, Yoon, Sung-Jae, Park, Yoo-Jin, Pang, Myung-Geol
Published in Molecular & cellular proteomics (01.05.2015)
Published in Molecular & cellular proteomics (01.05.2015)
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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, Pingping, Jin, Xiaofen, Peng, Yanyan, Wang, Meng, Liu, Hao, Liu, Xiaoling, Zhang, Zengjun, Ji, Yanchun, Zhang, Juanjuan, Liang, Min, Zhao, Fuxin, Sun, Yan-Hong, Zhang, Minglian, Zhou, Xiangtian, Chen, Ye, Mo, Jun Qin, Huang, Taosheng, Qu, Jia, Guan, Min-Xin
Published in Human molecular genetics (01.02.2016)
Published in Human molecular genetics (01.02.2016)
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Biochemical evidence for a mitochondrial genetic modifier in the phenotypic manifestation of Leber’s hereditary optic neuropathy-associated mitochondrial DNA mutation
Jiang, Pingping, Liang, Min, Zhang, Chaofan, Zhao, Xiaoxu, He, Qiufen, Cui, Limei, Liu, Xiaoling, Sun, Yan-Hong, Fu, Qun, Ji, Yanchun, Bai, Yidong, Huang, Taosheng, Guan, Min-Xin
Published in Human molecular genetics (15.08.2016)
Published in Human molecular genetics (15.08.2016)
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Abnormal morphology and function in retinal ganglion cells derived from patients-specific iPSCs generated from individuals with Leber’s hereditary optic neuropathy
Nie, Zhipeng, Wang, Chenghui, Chen, Jiarong, Ji, Yanchun, Zhang, Hongxing, Zhao, Fuxin, Zhou, Xiangtian, Guan, Min-Xin
Published in Human molecular genetics (06.01.2023)
Published in Human molecular genetics (06.01.2023)
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Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy
Jiang, Pingping, Liang, Min, Zhang, Juanjuan, Gao, Yinglong, He, Zheyun, Yu, Han, Zhao, Fuxin, Ji, Yanchun, Liu, Xiaoling, Zhang, Minglian, Fu, Qun, Tong, Yi, Sun, Yanhong, Zhou, Xiangtian, Huang, Taosheng, Qu, Jia, Guan, Min-Xin
Published in Investigative ophthalmology & visual science (01.07.2015)
Published in Investigative ophthalmology & visual science (01.07.2015)
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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy
Ji, Yanchun, Zhang, Juanjuan, Lu, Yuanyuan, Yi, Qiuzi, Chen, Mengquan, Xie, Shipeng, Mao, Xiaoting, Xiao, Yun, Meng, Feilong, Zhang, Minglian, Yang, Rulai, Guan, Min-Xin
Published in The Journal of biological chemistry (18.09.2020)
Published in The Journal of biological chemistry (18.09.2020)
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Epigenetic modification of liver mitochondrial DNA is associated with histological severity of nonalcoholic fatty liver disease
Pirola, Carlos Jose, Gianotti, Tomas Fernández, Burgueño, Adriana Laura, Rey-Funes, Manuel, Loidl, Cesar Fabian, Mallardi, Pablo, Martino, Julio San, Castaño, Gustavo Osvaldo, Sookoian, S
Published in Gut (01.09.2013)
Published in Gut (01.09.2013)
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Dysfunction in Mitochondrial Electron Transport Chain Complex I, Pyruvate Dehydrogenase Activity, and Mutations in ND1 and ND4 Gene in Autism Spectrum Disorder Subjects from Tamil Nadu Population, India
Mahalaxmi, Iyer, Subramaniam, Mohana Devi, Gopalakrishnan, Abilash Valsala, Vellingiri, Balachandar
Published in Molecular neurobiology (01.10.2021)
Published in Molecular neurobiology (01.10.2021)
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