Associated Papers
Novel HUWE1-Related Neurodevelopmental Disorder: Genotypic and Phenotypic Expansion.
Dai Y et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2026
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.
De Falco A et al.
American Journal of Medical Genetics. Part A, 2025
E3 ligases: a ubiquitous link between DNA repair, DNA replication and human disease.
Chauhan AS et al.
The Biochemical Journal, 2024
HAPSTR1 localizes HUWE1 to the nucleus to limit stress signaling pathways.
Monda JK et al.
Cell Reports, 2023
HUWE1 Amplifies Ubiquitin Modifications to Broadly Stimulate Clearance of Proteins and Aggregates.
Zhou M et al.
Biorxiv : the Preprint Server for Biology, 2023
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Solenoid architecture of HUWE1 contributes to ligase activity and substrate recognition.
Hunkeler M et al.
Molecular Cell, 2021
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities.
Aprigliano R et al.
Cell Reports. Medicine, 2021
Roles of the HUWE1 ubiquitin ligase in nervous system development, function and disease.
Giles AC et al.
Neural Development, 2020
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J et al.
European Journal of Medical Genetics, 2018
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S et al.
European Journal of Human Genetics : Ejhg, 2018
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
Impaired oxidative stress response characterizes HUWE1-promoted X-linked intellectual disability.
Bosshard M et al.
Scientific Reports, 2017
The HECT Family Ubiquitin Ligase EEL-1 Regulates Neuronal Function and Development.
Opperman KJ et al.
Cell Reports, 2017
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study.
Friez MJ et al.
Bmj Open, 2016
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
Piton A et al.
American Journal of Human Genetics, 2013
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Froyen G et al.
American Journal of Human Genetics, 2008