Article
Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.
Journal of medical genetics - 1 Apr 2023
Castilla-Vallmanya Laura, Centeno-Pla Mónica, Serrano Mercedes, Franco-Valls Héctor, Martínez-Cabrera Raúl, Prat-Planas Aina, Rojano Elena, Ranea Juan A G, Seoane Pedro, Oliva Clara, Paredes-Fuentes Abraham J, Marfany Gemma, Artuch Rafael, Grinberg Daniel, Rabionet Raquel, Balcells Susanna, Urreizti Roser
Abstract excerpt
BACKGROUND: Schaaf-Yang syndrome (SYS) is caused by truncating mutations in MAGEL2, mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a role in retrograde transport and protein recycling regulation. Our aim is to contribute to the characterisation of SYS pathophysiology at clinical, genetic and molecular levels. METHODS: We...
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