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

Ziegler, A., Steindl, K., Hanner, A. S., Kar, R. K., Prouteau, C., Boland, A., Deleuze, J. F., Coubes, C., Bézieau, S., Küry, S., Maystadt, I., Le Mao, M., Lenaers, G., Navet, B., Faivre, L., Tran Mau-Them, F., Zanoni, P., Chung, W. K., Rauch, A., … Park, M. H. (2022). Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder. The American Journal of Human Genetics, 109(8), 1549–1558. https://doi.org/10.1016/j.ajhg.2022.06.010
Authors:
Alban Ziegler
Clement Prouteau
Benjamin Navet
Dominique Bonneau
Morgane Le Mao
Guy Lenaers
Katharina Steindl
Paolo Zanoni
Anita Rauch
Ashleigh S. Hanner
Rajesh Kumar Kar
Myung Hee Park
Anne Boland
Jean Francois Deleuze
Christine Coubes
Stephane Bezieau
Sebastien Kury
Isabelle Maystadt
Laurence Faivre
Frederic Tran Mau-Them
Wendy K. Chung
Affiliated Authors:
Wendy K. Chung
Author Keywords:
dhps
dohh
eif5a1
deoxyhypusine hydroxylase
eif5a
hypusine
microcephaly
neurodevelopmental disorder
post-translational modification
translation
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.06.010
PMID:
Publication Date:
Data Source:
Web of Science

Record Created: