Article

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

2022-05-07

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> 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 characterization of SYS pathophysiology at clinical, genetic and mol...

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Literature Corpus work: ca2e85ee-87c1-5cd0-bcd1-9ebbdf39a4b4
DOI: 10.1101/2022.05.04.22274475

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