Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder-Reference-Cited by-同舟云学术

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

Published:2022-08 Issue:8 Volume:109 Page:1549-1558
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Ziegler Alban^ORCID,Steindl Katharina,Hanner Ashleigh S.,Kar Rajesh Kumar,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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference29 articles.

1. Hypusine, a polyamine-derived amino acid critical for eukaryotic translation;Park;J. Biol. Chem.,2018

2. Post-translational formation of hypusine in eIF5A: implications in human neurodevelopment;Park;Amino Acids,2022

3. Cloning and expression of human deoxyhypusine synthase cDNA: structure-function studies with the recombinant enzyme and mutant proteins;Joe;J. Biol. Chem.,1995

4. Molecular cloning, expression, and structural prediction of deoxyhypusine hydroxylase: a HEAT-repeat-containing metalloenzyme;Park;Proc. Natl. Acad. Sci. USA,2006

5. Posttranslational synthesis of hypusine: evolutionary progression and specificity of the hypusine modification;Wolff;Amino Acids,2007

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4. eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.;2024-06-03

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