Articles with "snyder robinson" as a keyword



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Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells

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Published in 2022 at "JCI Insight"

DOI: 10.1172/jci.insight.158457

Abstract: Polyamine dysregulation plays key roles in a broad range of human diseases from cancer to neurodegeneration. Snyder-Robinson syndrome (SRS) is the first known genetic disorder of the polyamine pathway, caused by X-linked recessive loss-of-function mutations… read more here.

Keywords: snyder robinson; drosophila model; robinson syndrome; srs ... See more keywords