부산대학교 도서관

This article, published in the journal Neuropediatrics, discusses the role of autophagy in cellular clearance and the degradation of specific substrates. The authors focus on the RNaseL pathway and its activation by 2′,5′-oligoadenylate synthetase proteins (OAS) in response to viral RNA. They present clinical, molecular, and imaging data from four patients with biallelic variants in OAS2, highlighting the association of these variants with skeletal dysplasia, neurodevelopmental disorders, and immunodeficiency. The study also includes experimental findings from cellular assays and proteomics, as well as single cell RNA sequencing. The authors conclude that biallelic OAS2 variants may be a novel candidate gene for developmental disorders and suggest a close relationship between deficient innate immune response and autophagy in monogenic neuroimmunological disorders. [Extracted from the article]