Article

Characterization of mitochondrial alterations in Aicardi-Goutières patients mutated in RNASEH2A and RNASEH2B genes

2022-07-13

Abstract excerpt

<h4>Background: </h4> 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 by studying patients mutated in RNASEH2B and RNASEH2A genes. <h4>Methods: </h4> Lymphoblastoid...

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Literature Corpus work: c1e4108e-747f-58c9-8c18-f1006c347692
DOI: 10.21203/rs.3.rs-1816035/v1

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