Publication: Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
Date
Date
Date
Citations
Ziegler, A., Steindl, K., Hanner, A. S., Kumar Kar, R., 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. American Journal of Human Genetics, 109(8), 1549–1558. https://doi.org/10.1016/j.ajhg.2022.06.010
Abstract
Abstract
Abstract
Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [Nε-(4-amino-2-hydroxybutyl)lysine] in the eukaryotic initiation factor 5A (eIF5A). Hypusine is formed exclusively in eIF5A by two sequential enzymatic steps catalyzed by deoxyhypusine synthase (DHPS) and deoxyhypusine hydroxylase (DOHH). Hypusinated eIF5A is essential for translation and cell proliferation in eukaryotes, and all three genes encoding eIF5A, DHPS, and DOHH are highly conserved throughout eukaryotes.
Additional indexing
Creators (Authors)
Volume
Volume
Volume
Number
Number
Number
Page range/Item number
Page range/Item number
Page range/Item number
Page end
Page end
Page end
Item Type
Item Type
Item Type
In collections
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Dewey Decimal Classifikation
Keywords
Language
Language
Language
Publication date
Publication date
Publication date
Date available
Date available
Date available
ISSN or e-ISSN
ISSN or e-ISSN
ISSN or e-ISSN
Additional Information
Additional Information
Additional Information
OA Status
OA Status
OA Status
Free Access at
Free Access at
Free Access at
Publisher DOI
Citations
Ziegler, A., Steindl, K., Hanner, A. S., Kumar Kar, R., 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. American Journal of Human Genetics, 109(8), 1549–1558. https://doi.org/10.1016/j.ajhg.2022.06.010
