Associated Papers
UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.
Ai L et al.
International Journal of Biological Macromolecules, 2026
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
UBA5-epileptic encephalopathy: new patient, a novel variant, and a review of epileptic phenotypes.
Cinnirella C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
MCM5 UFMylation regulates replication origin firing and fork progression.
Li Z et al.
The Embo Journal, 2025
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X et al.
Elife, 2023
A guide to UFMylation, an emerging posttranslational modification.
Millrine D et al.
The Febs Journal, 2023
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
The 3D mutational constraint on amino acid sites in the human proteome.
Li B et al.
Nature Communications, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy.
Briere LC et al.
Cold Spring Harbor Molecular Case Studies, 2021
A homozygous UBA5 pathogenic variant causes a fatal congenital neuropathy.
Cabrera-Serrano M et al.
Journal of Medical Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.
Daida A et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Nahorski MS et al.
Brain : a Journal of Neurology, 2018
Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
Mignon-Ravix C et al.
Human Mutation, 2018
A novel approach to assess the ubiquitin-fold modifier 1-system in cells.
Ishimura R et al.
Febs Letters, 2017
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
Colin E et al.
American Journal of Human Genetics, 2016