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Paper Details

Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
HGG Adv
2
2023
(), () gene, DHPS, DHPS deficiency, DHPS enzyme, DHPS protein, Deoxyhypusine, Deoxyhypusine synthase, cytoplasmic localized hypusinated form, developmental delay, eIF5A, eukaryotic initiation factor 5A, genetic disease, human, human variants, hypusine, intellectual disability, mRNA, mouse, nuclear localized acetylated form, patient, patient-derived lymphoblast cell lines, seizures
Author NameAffiliation
Wendy K ChungColumbia University
Wendy K ChungColumbia University
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Release 1.2