Phase Separation Contributes to Pathogenicity for Nonsense Mediated Decay-Escaping Variant Alleles
Jiaoyang Xu, Jacob Schmidt, Amy Campbell, Tugce Bozkurt‐Yozgatli, Iman Egab, Luisa Mestroni, Matthew Taylor, Jennifer Ellen Posey, Richard A. Gibbs, Eric Boerwinkle, Paul De Vries, Alanna Morrison, S. Stephen Yi, Chad A. Shaw, Claudia M. B. Carvalho, , Zeynep Coban‐Akdemir
This study identifies NMD-escape variants as a distinct class of disease-causing mutations, showing that altered C-terminal regions drive pathogenicity through phase separation.
medRxiv · Dec 2, 2025 · PreprintGenetic & Genomic Medicine