Article

eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.

2024-06-03

Abstract excerpt

<title>Abstract</title> <p>Background Eukaryotic initiation factor 5A (eIF5A) and hypusination-related disorders (eIF5A-HRD) are recently described diseases caused by pathogenic heterozygous variants in the translation factor EIF5A or biallelic variants in the two enzymes involved in the post-translational synthesis of hypusine in the eIF5A precursor, deoxyhypusine synthase (DHPS) and deoxyhypusine hydroxylase (...

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Literature Corpus work: 9a37abbb-fd18-5a31-9b8c-1b519230071f
DOI: 10.21203/rs.3.rs-3837969/v1

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