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

Author:

Zhang Juanjuan1234,Ji Yanchun12,Lu Yuanyuan234,Fu Runing34,Xu Man34,Liu Xiaoling34,Guan Min-Xin12345ORCID

Affiliation:

1. Division of Medical Genetics and Genomics, The Children’s Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310052, China

2. Institute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310058, China

3. School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang 325600, China

4. Attardi Institute of Mitochondrial Biomedicine, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325035, China

5. Joint Institute of Genetics and Genome Medicine between Zhejiang University and University of Toronto, Hangzhou, Zhejiang, China

Funder

Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference73 articles.

1. Clinical picture of LHON;Nikoskelainen;Clin. Neurosci,1994

2. Hereditary optic neuropathies: from the mitochondria to the optic nerve;Newman;Am. J. Ophthalmol,2005

3. Inherited mitochondrial optic neuropathies;Yu-Wai-Man;J. Med. Genet,2009

4. Leber’s hereditary optic neuropathy;Sadun;Curr. Treat. Options Neurol,2011

5. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders;Carelli;Biochim. Biophys. Acta,2009

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