Neuron-specific ablation of eIF5A or deoxyhypusine synthase leads to impairments in growth, viability, neurodevelopment, and cognitive functions in mice

Autor: Kar, Rajesh Kumar, Hanner, Ashleigh S., Starost, Matthew F., Springer, Danielle, Mastracci, Teresa L., Mirmira, Raghavendra G., Park, Myung Hee

Publikováno v: In Journal of Biological Chemistry November 2021 297(5)

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder

Autor: Ziegler, Alban, Steindl, Katharina, Hanner, Ashleigh S, Kumar Kar, Rajesh, Prouteau, Clément, Boland, Anne, Deleuze, Jean Francois, Coubes, Christine, Bézieau, Stéphane, Küry, Sébastien, Maystadt, Isabelle, Le Mao, Morgane, Lenaers, Guy, Navet, Benjamin, Faivre, Laurence, Tran Mau-Them, Frédéric, Zanoni, Paolo, Chung, Wendy K, Rauch, Anita, Bonneau, Dominique, Park, Myung Hee

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2022, 109 (8), pp.1549-1558. ⟨10.1016/j.ajhg.2022.06.010⟩
Am J Hum Genet

Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N(ε)-(4-amino-2-hydroxybutyl)lysine] in the eukaryotic initiation factor 5A (eIF5A). Hypusine is formed exclusively in eIF5A b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f514769cd3c3a2da1fb0f6d398fd4208
https://doi.org/10.1016/j.ajhg.2022.06.010