A novel variant in ADPRS disrupts ARH3 stability and subcellular localization in childrenwith neurodegeneration and respiratory failure
Maxwell Henry Bannister, Sarah Bray, Anjali Aggarwal, Charles John Billington, Hai Dang Nguyen
This study identifies a novel ADPRS variant causing ARH3 dysfunction in children with neurodegeneration and respiratory failure, linking it to protein instability and mislocalization.
bioRxiv · Jun 14, 2024 · PreprintMolecular Biology