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

• Published in: The Journal of clinical investigation Vol. 130; no. 9; pp. 4935 - 4946
• Main Authors: Yu, Jialing, Liang, Xiaoyang, Ji, Yanchun, Ai, Cheng, Liu, Junxia, Zhu, Ling, Nie, Zhipeng, Jin, Xiaofen, Wang, Chenghui, Zhang, Juanjuan, Zhao, Fuxin, Mei, Shuang, Zhao, Xiaoxu, Zhou, Xiangtian, Zhang, Minglian, Wang, Meng, Huang, Taosheng, Jiang, Pingping, Guan, Min-Xin
• Format: Journal Article
• Language: English
• Published: United States American Society for Clinical Investigation 01.09.2020
• Subjects: Adenosine triphosphatase; Adenosine Triphosphatases - genetics; Adenosine Triphosphatases - metabolism; Adolescent; Adult; Aged; Aged, 80 and over; Amino Acid Substitution; Animals; Asymptomatic; ATP synthase; ATPases; Biomedical research; Biosynthesis; Child; Degeneration; Deoxyribonucleic acid; DNA; DNA sequencing; Evolution; Eye diseases; Family; Female; Genetic aspects; Humans; Leber's optic atrophy; LIM Domain Proteins - genetics; LIM Domain Proteins - metabolism; Male; Mice; Mice, Knockout; Middle Aged; Mitochondria; Mitochondrial DNA; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Mutation; Mutation, Missense; Optic Atrophy, Hereditary, Leber - genetics; Optic Atrophy, Hereditary, Leber - metabolism; Optic Atrophy, Hereditary, Leber - pathology; Optic neuropathy; Phenotypes; Phosphorylation; Proteins; Retina; Retinal ganglion cells; China; Genetics; Molecular pathology; Mitochondria; Ophthalmology; Genetic diseases

Leber's hereditary optic neuropathy (LHON) is a maternally inherited eye disease. X-linked nuclear modifiers were proposed to modify the phenotypic manifestation of LHON-associated mitochondrial DNA (mtDNA) mutations. By whole-exome sequencing, we identified the X-linked LHON modifier (c.157C&g...