Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis

Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis

Summary: 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)...

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Bibliographic Details
Main Authors: Leah R. Padgett, Mollie R. Shinkle, Spencer Rosario, Tracy Murray Stewart, Jackson R. Foley, Robert A. Casero, Jr., Myung Hee Park, Wendy K. Chung, Teresa L. Mastracci
Format: Article
Language:English
Published: Elsevier 2023-07-01
Series:HGG Advances
Subjects:
DHPS deficiency
neurodevelopment
DHPS
eIF5A
hypusination
hypusine
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000386

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http://www.sciencedirect.com/science/article/pii/S2666247723000386

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