Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder-Reference-Cited by-同舟云学术

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Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder

Published:2024-05-16 Issue:7 Volume:102 Page:913-926
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Yuan Xiangshu,Wang Ya,Li Xiyuan,Zhong Sheng,Zhou Danyi,Lin Xianlong,Fang Hezhi^ORCID,Yang Yanling,Wang Maofeng

Funder

National Natural Science Foundation of China-excellent young scientists fund

the Pioneer and Leading Goose Research and Development Program of Zhejiang Province

Natural Science Foundation of China

the Natural Science Foundation of China

Zhejiang Provincial Natural Science Foundation

Scientific Research Fund of Zhejiang Provincial Education Department

the Science and Technology Bureau of Wenzhou

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s00109-024-02454-4.pdf

Reference50 articles.

1. Shribman S, Reid E, Crosby AH, Houlden H, Warner TT (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 18(12):1136–1146

2. Meyyazhagan A, Orlacchio A (2022) Hereditary spastic paraplegia: an update. Int J Mol Sci 23(3):1697

3. Hedera P (2021) Hereditary spastic paraplegia overview. GeneReviews® [Internet] (Bookshelf ID: NBK1509)

4. Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G (2003) Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 163(4):777–787

5. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, De Michele G, Filla A, Cocozza S, Marconi R et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93(6):973–983

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