Associated Papers
UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.
Ai L et al.
International Journal of Biological Macromolecules, 2026
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
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
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