Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

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 ze...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Nature Publishing Group 2021-02-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-021-21053-2

Internet

https://doi.org/10.1038/s41467-021-21053-2

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