The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4-Reference-Cited by-同舟云学术

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The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4

Published:2022-11 Issue:11 Volume:24 Page:2308-2317
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Parodi Livia^ORCID,Barbier Mathieu,Jacoupy Maxime,Pujol Claire,Lejeune François-Xavier,Lallemant-Dudek Pauline,Esteves Typhaine,Pennings Maartje,Kamsteeg Erik-Jan,Guillaud-Bataille Marine,Banneau Guillaume,Coarelli Giulia,Oumoussa Badreddine Mohand,Fraidakis Matthew J.,Stevanin Giovanni,Depienne Christel,van de Warrenburg Bart,Brice Alexis,Durr Alexandra^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference40 articles.

1. Spastic paraplegia 4;Parodi,1993

2. Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms;Lo Giudice;Exp Neurol,2014

3. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia;Hazan;Nat Genet,1999

4. Spastin mutations are frequent in sporadic spastic paraparesis and their spectrum is different from that observed in familial cases;Depienne;J Med Genet,2006

5. Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex;Parodi;Brain,2018

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis;iScience;2024-09

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