Article
Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
HGG advances - 13 Jul 2023
Padgett Leah R, Shinkle Mollie R, Rosario Spencer, Stewart Tracy Murray, Foley Jackson R, Casero Robert A, Park Myung Hee, Chung Wendy K, Mastracci Teresa L
Abstract excerpt
DHPS deficiency is a rare genetic disease caused by biallelic hypomorphic variants in the Deoxyhypusine synthase (DHPS) gene. The DHPS enzyme functions in mRNA translation by catalyzing the post-translational modification, and therefore activation, of eukaryotic initiation factor 5A (eIF5A). The observed clinical outcomes associated with human mutations in DHPS include developmental delay, intellectual...
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