Juanjuan Zhang

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

Pingping Jiang, Xiaofen Jin, Yanyan Peng et al. · Human Molecular Genetics · 2015 · 103 citations · Full text

Leber’s hereditary optic neuropathy (LHON)-associated ND5 12338T > C mutation altered the assembly and function of complex I, apoptosis and mitophagy

Juanjuan Zhang, Yanchun Ji, Yuanyuan Lu et al. · Human Molecular Genetics · 2018 · 72 citations · Full text

C Mutation, Mitochondrial Dysfunction, Genetics +25

PRICKLE3 linked to ATPase biogenesis manifested Leber’s hereditary optic neuropathy

Jialing Yu, Xiaoyang Liang, Yanchun Ji et al. · Journal of Clinical Investigation · 2020 · 61 citations · Full text

Genetics, Molecular Biology, Retinal Deficiencies +17

Extremely Low Penetrance of Leber's Hereditary Optic Neuropathy in 8 Han Chinese Families Carrying the ND4 G11778A Mutation

Jia Qu, Xiangtian Zhou, Juanjuan Zhang et al. · Ophthalmology · 2009 · 59 citations · Full text

Mendelian Disorder, Ophthalmology, Genetic Disorder +12

Prevalence of Mitochondrial<i>ND4</i>Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy

Pingping Jiang, Min Liang, Juanjuan Zhang et al. · Investigative Ophthalmology & Visual Science · 2015 · 59 citations