Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2

Conclusion
A truncated MAGEL2 protein is stable and localises mainly in the nucleus, where it might exert a pathogenic neomorphic effect. Aβ1-40 secretion levels and HOTAIR mRNA levels might be promising biomarkers for SYS. Our findings may improve SYS understanding and clinical management.

Source: Journal of Medical Genetics - March 20, 2023 Category: Genetics & Stem Cells Authors: Castilla-Vallmanya, L., Centeno-Pla, M., Serrano, M., Franco-Valls, H., Martinez-Cabrera, R., Prat-Planas, A., Rojano, E., Ranea, J. A. G., Seoane, P., Oliva, C., Paredes-Fuentes, A. J., Marfany, G., Artuch, R., Grinberg, D., Rabionet, R., Balcells, S., U Tags: Open access Functional genomics Source Type: research