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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Functional Genomics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086475/
https://www.ncbi.nlm.nih.gov/pubmed/36243518
http://dx.doi.org/10.1136/jmg-2022-108690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10086475/
https://www.ncbi.nlm.nih.gov/pubmed/36243518
http://dx.doi.org/10.1136/jmg-2022-108690

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