Molecular BiologybioRxivPreprint
Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome
Mónica Centeno-Pla, Estefanía Alcaide-Consuegra, Sophie Gibson…·Susana Balcells
The paper investigates the subcellular localization of truncated MAGEL2 proteins in Schaaf-Yang syndrome, finding that all truncated variants predominantly localize to the nucleus, with more severe clinical features associated with greater nuclear retention.
DOI 10.1101/2024.01.22.576607