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

Padgett, L. R., Shinkle, M. R., Rosario, S., Stewart, T. M., Foley, J. R., Casero, R. A., Park, M. H., Chung, W. K., & Mastracci, T. L. (2023). Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis. Human Genetics and Genomics Advances, 4(3), 100206. https://doi.org/10.1016/j.xhgg.2023.100206
Authors:
Leah R Padgett
Mollie R Shinkle
Spencer Rosario
Tracy Murray Stewart
Jackson R Foley
Robert A Casero
Myung Hee Park
Wendy K Chung
Teresa L Mastracci
Affiliated Authors:
Wendy K Chung
Columbia Affiliation:
Subjects:
Peptide Initiation Factors (MeSH)
Rare Diseases (MeSH)
Oxidoreductases Acting on CH-NH Group Donors (MeSH)
Author Keywords:
dhps
dhps deficiency
eif5a
hypusination
hypusine
mrna translation
neurodevelopment
rare disease
elink
Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2023.100206
PMID:
37333770
DOI:
10.1016/j.xhgg.2023.100206
Journal:
Human Genetics and Genomics Advances
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created: