Article

A gene therapy strategy for Deoxyhypusine Synthase (DHPS) syndrome

2026-05-21

Abstract excerpt

<title>Abstract</title> <p> Deoxyhypusine synthase (DHPS) syndrome is a rare, autosomal recessive neurodevelopmental disorder caused by biallelic pathogenic variants in the <italic>DHPS</italic> gene, which encodes deoxyhypusine synthase. This enzyme is essential for the post-translational hypusination of eukaryotic translation initiation factor 5A (eIF5A), a modification crucial for cell viability, protein sy...

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Literature Corpus work: ee6bc6b9-7e73-5b13-9556-d31389973f1e
DOI: 10.21203/rs.3.rs-9621764/v1

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