학술논문
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Document Type
article
Author
Víctor Faundes; Martin D. Jennings; Siobhan Crilly; Sarah Legraie; Sarah E. Withers; Sara Cuvertino; Sally J. Davies; Andrew G. L. Douglas; Andrew E. Fry; Victoria Harrison; Jeanne Amiel; Daphné Lehalle; William G. Newman; Patricia Newkirk; Judith Ranells; Miranda Splitt; Laura A. Cross; Carol J. Saunders; Bonnie R. Sullivan; Jorge L. Granadillo; Christopher T. Gordon; Paul R. Kasher; Graham D. Pavitt; Siddharth Banka
Source
Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
eIF5A is critical for protein synthesis but has not yet been associated with congenital human disease. Here, the authors show that EIF5A variants cause a Mendelian disorder via reduced eIF5A-ribosome interactions and this phenotype is partially corrected by spermidine supplementation in yeast and zebrafish.