Associated Papers
UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.
Ai L et al.
International Journal of Biological Macromolecules, 2026
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 UFM1 conjugation system in mammalian development.
Yang S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2023
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
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
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