An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure

This is the authors' abstract. We don't add key points for this paper.

mutant additionally fails to localize to the nucleus, which further resulted in accumulated mono-ADP ribosylated species in cells. The children's clinical course combined with the biochemical characterization of their genetic variant develops our understanding of the pathogenic mechanisms driving CONDSIAS and highlights a critical role for ARH3-regulated ADP-ribosylation in nervous system integrity.