A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.
Maxwell BannisterSarah BrayAnjali AggarwalCharles BillingtonHai Dang NguyenPublished in: bioRxiv : the preprint server for biology (2024)
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.