ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons-Reference-Cited by-同舟云学术

ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons

Published:2024-09-04 Issue:1 Volume:12 Page:
ISSN:2051-5960
Container-title:Acta Neuropathologica Communications
language:en
Short-container-title:acta neuropathol commun

Author:

Zelina Pavol,de Ruiter Anna Aster,Kolsteeg Christy,van Ginneken Ilona,Vos Harmjan R.,Supiot Laura F.,Burgering Boudewijn M. T.,Meye Frank J.,Veldink Jan H.,van den Berg Leonard H.,Pasterkamp R. Jeroen^ORCID

Funder

Stichting ALS Nederland

E-Rare

JPND

ALS Cure project

Nederlandse Organisatie voor Wetenschappelijk Onderzoek

H2020 European Research Council

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1186/s40478-024-01852-6.pdf

Reference103 articles.

1. Brown RH, Al-Chalabi A (2017) Amyotrophic lateral sclerosis. N Engl J Med 377:162–172. https://doi.org/10.1056/NEJMra1603471

2. Masrori P, Van Damme P (2020) Amyotrophic lateral sclerosis: a clinical review. Eur J Neurol 27:1918–1929. https://doi.org/10.1111/ene.14393

3. Longinetti E, Fang F (2019) Epidemiology of amyotrophic lateral sclerosis: an update of recent literature. Curr Opin Neurol 32(5):771–776. https://doi.org/10.1097/wco.0000000000000730

4. Al-Chalabi A, Hardiman O (2013) The epidemiology of ALS: a conspiracy of genes, environment and time. Nat Rev Neurol 9:617–628. https://doi.org/10.1038/nrneurol.2013.203

5. Al-Chalabi A, Calvo A, Chio A, Colville S, Ellis CM, Hardiman O, Heverin M, Howard RS et al (2014) Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study. Lancet Neurol 13:1108–1113. https://doi.org/10.1016/S1474-4422(14)70219-4