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

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 obs...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10275725/
https://www.ncbi.nlm.nih.gov/pubmed/37333770
http://dx.doi.org/10.1016/j.xhgg.2023.100206

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