Article

Subcellular localization of truncated MAGEL2 proteins: insight into the molecular pathology of Schaaf-Yang syndrome

2024-01-23

Abstract excerpt

<h4>ABSTRACT</h4> Schaaf-Yang syndrome (SYS) is an ultra-rare neurodevelopmental disorder caused by truncating mutations in MAGEL2 . Heterologous expression of wild-type (WT) or a truncated (p.Gln638*) C-terminal HA-tagged MAGEL2 revealed a shift from a primarily cytoplasmic to a more nuclear localization for the truncated protein variant. We now extend this analysis to six additional SYS mutations on a N-termin...

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Literature Corpus work: ecc6f1b8-3965-5078-9caa-079d064c7f1d
DOI: 10.1101/2024.01.22.576607

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