OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion-Reference-Cited by-同舟云学术

OPA1 haploinsufficiency due to a novel splicing variant resulting in mitochondrial dysfunction without mitochondrial DNA depletion

Published:2020-11-29 Issue:1 Volume:42 Page:45-52
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Sun Chuanbin¹,Wu Xiaoyu²,Bai Hai-Xia¹,Wang Chenghui²,Liu Zhe³,Yang Chenxi²,Lu Yijun²,Jiang Pingping²^ORCID

Affiliation:

1. Eye Center, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, China

2. Division of Medical Genetics and Genomics, the Children’s Hospitals, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China

3. Department of Ophthalmology, Zhejiang Provincial People’s Hospital, Hangzhou, China

Funder

National Natural Science Foundation of China

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1849313

Reference27 articles.

1. Autosomal Dominant Hereditary Optic Neuropathy (ADOA): A Review of the Genetics and Clinical Manifestations of ADOA and ADOA+

2. A neurodegenerative perspective on mitochondrial optic neuropathies

3. Eight human OPA1 isoforms, long and short: What are they for?

4. OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance

5. OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion

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1. Characterisation of a novel OPA1 splice variant resulting in cryptic splice site activation and mitochondrial dysfunction;European Journal of Human Genetics;2022-05-09

2. The Role of Mitochondria in Optic Atrophy With Autosomal Inheritance;Frontiers in Neuroscience;2021-11-15