Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

American journal of human genetics - 4 Aug 2022

Ziegler Alban, 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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to Lysine

Share to Mixed Function Oxygenases

Share to Neurodevelopmental Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 35858628
DOI: 10.1016/j.ajhg.2022.06.010
PMCID: PMC9388783

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.PMID 35858628Read ↗

eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.Semantic proximity Read ↗

Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.Semantic proximity Read ↗

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.Semantic proximity Read ↗

A gene therapy strategy for Deoxyhypusine Synthase (DHPS) syndromeSemantic proximity Read ↗

The Drosophila deoxyhypusine hydroxylase homologue nero and its target eIF5A are required for cell growth and the regulation of autophagy.Semantic proximity Read ↗

Neuron specific ablation of eIF5A or deoxyhypusine synthase leads to impairment in development and cognitive functions in miceSemantic proximity Read ↗

Deoxyhypusine synthase deficiency syndrome zebrafish model: aberrant morphology, epileptiform activity, and reduced arborization of inhibitory interneurons.Semantic proximity Read ↗

DPH1 and DPH2 variants that confer susceptibility to diphthamide deficiency syndrome in human cells and yeast models.Semantic proximity Read ↗

The contribution of de novo coding mutations to meningomyeloceleSemantic proximity Read ↗

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.Semantic proximity Read ↗

Functional modeling of NMIHBA-causing <i>PRUNE1</i> variants reveals a requirement for its exopolyphosphatase activitySemantic proximity Read ↗

DNAJC12-associated developmental delay, movement disorder, and mild hyperphenylalaninemia identified by whole-exome sequencing re-analysis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.