Associated Papers
Early-onset epileptic encephalopathy combined with cerebellar ataxia: A case report expanding the phenotypic spectrum of UBA5-related disorders.
Mustafa F et al.
Parkinsonism & Related Disorders, 2026
UBA5 missense variants disrupt UFM1 activation: Structural, dynamic, and functional dissection.
Ai L et al.
International Journal of Biological Macromolecules, 2026
A guide to UFMylation, an emerging posttranslational modification.
Millrine D et al.
The Febs Journal, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A novel approach to assess the ubiquitin-fold modifier 1-system in cells.
Ishimura R et al.
Febs Letters, 2017
Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona M et al.
American Journal of Human Genetics, 2016
UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.
Duan R et al.
Plos One, 2016
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