ArticleAmerican journal of human genetics2022
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder.
Open access · greenAbstract read
In one paragraph
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed
2.4field-weighted citation impact, top 10% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 30 citations in OpenAlex.
- Beyond Coding Variants: RNA-Level Mechanisms in Human Disease and Precision Therapeutics.Genes · 2026Review
- Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review.American journal of medical genetics. Part A · 2026Review
- Crystallographic fragment screening supports tool compound discovery and reveals conformational flexibility in human deoxyhypusine synthase.Communications chemistry · 2026Article
- Genetic analysis of three familial cases of pure terminal 19p13.3 duplication caused by maternal balanced translocation t(19;21) (p13.3;p12).Frontiers in genetics · 2026Article
- Case Report: A new patient expanding the clinical spectrum ofFrontiers in pediatrics · 2026Article
- Polyamine Metabolism in Brain Health and Disease.Neuropharmacology and therapy · 2026Article
- From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Frontiers in epigenetics and epigenomics · 2026Review
- Polyamine metabolism in cancer: drivers of immune evasion, ferroptosis and therapy resistance.Expert reviews in molecular medicine · 2025Review
- eIF5A and hypusination-related disorders: literature review and case report of DOHH-related encephalopathy.Journal of neurodevelopmental disorders · 2025Review
- Collection, preparation, and biobanking of clinical specimens for analysis in polyaminopathies.Methods in enzymology · 2025Article
- Deoxyhypusine synthase deficiency syndrome zebrafish model: aberrant morphology, epileptiform activity, and reduced arborization of inhibitory interneurons.Molecular brain · 2024Article
- The Many Faces of Hypusinated eIF5A: Cell Context-Specific Effects of the Hypusine Circuit and Implications for Human Health.International journal of molecular sciences · 2024Review
- Structural Insights into the Mechanisms Underlying Polyaminopathies.International journal of molecular sciences · 2024Review
- Bachmann-Bupp syndrome and treatment.Developmental medicine and child neurology · 2024Review
- Analysis of network expression and immune infiltration of disulfidptosis-related genes in chronic obstructive pulmonary disease.Immunity, inflammation and disease · 2024Article
- Polyamines: Key Players in Immunometabolism and Immune Regulation.Journal of cellular immunology · 2024Article
- Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.HGG advances · 2023Article
- The first evidence of biological activity for free Hypusine, an enigmatic amino acid discovered in the '70s.Amino acids · 2023Article
- The Role of Spermidine and Its Key Metabolites in Important, Pathogenic Human Viruses and in Parasitic Infections Caused byBiomolecules · 2023Review
- Two New Cases of Bachmann-Bupp Syndrome Identified through the International Center for Polyamine Disorders.Medical sciences (Basel, Switzerland) · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
21 authors at 8 institutions in 4 countries.
Alban ZieglerDépartement de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, 49933, Angers France; Université d'Angers, MitoVasc Unit, UMR Centre National de la Recherche Scientifique 6015, INSERM 1083, 49000 Angers, France. Electronic address: alban.ziegler@chu-angers.fr.
Katharina SteindlInstitute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
Ashleigh S HannerNational Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4340, USA.
Rajesh Kumar KarNational Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4340, USA.
Clément ProuteauDépartement de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, 49933, Angers France.
Anne BolandUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, 91057, Evry, France.
Jean Francois DeleuzeUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, 91057, Evry, France.
Christine CoubesDépartement de Génétique Médicale, Hôpital Arnaud de Villeneuve, Centre Hospitalier-Universitaire de Montpellier, 34295 Montpellier, France.
Stéphane BézieauNantes Université, Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du thorax, 44000 Nantes, France.
Sébastien KüryNantes Université, Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du thorax, 44000 Nantes, France.
Isabelle MaystadtCentre de Génétique Humaine, Institut de Pathologie et de Génétique, 6041 Gosselies, Belgique.
Morgane Le MaoUniversité d'Angers, MitoVasc Unit, UMR Centre National de la Recherche Scientifique 6015, INSERM 1083, 49000 Angers, France.
Guy LenaersUniversité d'Angers, MitoVasc Unit, UMR Centre National de la Recherche Scientifique 6015, INSERM 1083, 49000 Angers, France; Service de Neurologie, Centre Hospitalier Universitaire d'Angers, 49933, Angers France.
Benjamin NavetDépartement de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, 49933, Angers France.
Laurence FaivreUnité de Formation et de Recherche des Sciences de Santé, INSERM-Université de Bourgogne, UMR 1231, Genetics of Developmental Disorders, FHU-TRANSLAD, 21000, Dijon, France; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU-TRANSLAD, Hôpital d'Enfants, Centre Hospitalier Universitaire Dijon, 21000, Dijon, France.
Frédéric Tran Mau-ThemUnité de Formation et de Recherche des Sciences de Santé, INSERM-Université de Bourgogne, UMR 1231, Genetics of Developmental Disorders, FHU-TRANSLAD, 21000, Dijon, France; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Dijon Bourgogne, Dijon, France.
Paolo ZanoniInstitute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
Wendy K ChungDepartment of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA.
Anita RauchInstitute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.
Dominique BonneauDépartement de Génétique Médicale, Centre Hospitalier Universitaire d'Angers, 49933, Angers France; Université d'Angers, MitoVasc Unit, UMR Centre National de la Recherche Scientifique 6015, INSERM 1083, 49000 Angers, France.
Myung Hee ParkNational Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD 20892-4340, USA. Electronic address: mhpark@nih.gov.
Inserm · FRNational Institutes of Health · USUniversity of Zurich · CHCentre Hospitalier Universitaire d'Angers · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRCentre Hospitalier Universitaire de Montpellier · FRColumbia University · USInstitute of Pathology and Genetics · BE
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deoxyhypusine hydroxylase (DOHH) is the enzyme catalyzing the second step in the post-translational synthesis of hypusine [N
Indexed as
LysineMixed Function OxygenasesNeurodevelopmental DisordersAllelesGene ExpressionHumansdeoxyhypusine hydroxylasehypusineLysineMixed Function Oxygenasesdeoxyhypusine hydroxylaseDHPSDOHHeIF5AEIF5A1hypusinemicrocephalyneurodevelopmental disorderpost-translational modificationtranslation
Identifiers
What OpenQuestion holds
Textmetadata
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.