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Characterization of Mitochondrial Alterations in Aicardi–Goutières Patients Mutated in RNASEH2A and RNASEH2B Genes

Aicardi–Goutières syndrome (AGS) is a rare encephalopathy characterized by neurological and immunological features. Mitochondrial dysfunctions may lead to mitochondrial DNA (mtDNA) release and consequent immune system activation. We investigated the role of mitochondria and mtDNA in AGS pathogenesis...

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Detalles Bibliográficos
Autores principales: Dragoni, Francesca, Garau, Jessica, Sproviero, Daisy, Orcesi, Simona, Varesio, Costanza, De Siervi, Silvia, Gagliardi, Stella, Cereda, Cristina, Pansarasa, Orietta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9692803/
https://www.ncbi.nlm.nih.gov/pubmed/36430958
http://dx.doi.org/10.3390/ijms232214482