An AGS-associated mutation in ADAR1 catalytic domain results in early-onset and MDA5-dependent encephalopathy with IFN pathway activation in the brain

BACKGROUND: Aicardi–Goutières syndrome (AGS) is a severe neurodegenerative disease with clinical features of early-onset encephalopathy and progressive loss of intellectual abilities and motor control. Gene mutations in seven protein-coding genes have been found to be associated with AGS. However, t...

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Detalles Bibliográficos
Autores principales: Guo, Xinfeng, Steinman, Richard A., Sheng, Yi, Cao, Guodong, Wiley, Clayton A., Wang, Qingde
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714073/
https://www.ncbi.nlm.nih.gov/pubmed/36457126
http://dx.doi.org/10.1186/s12974-022-02646-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9714073/
https://www.ncbi.nlm.nih.gov/pubmed/36457126
http://dx.doi.org/10.1186/s12974-022-02646-0

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