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
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
Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays.
Pan X et al.
Elife, 2023
Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report.
Zhang S et al.
Acta Epileptologica, 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
Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.
Chuan Z et al.
Frontiers in Genetics, 2022
35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1
Genomic profiling of the UFMylation family genes identifies UFSP2 as a potential tumour suppressor in colon cancer.
Zhou J et al.
Clinical and Translational Medicine, 2021
34923774 (PubMed )
Supplement: CTM2-11-e642-s001.zip › Supplementary_Data._4.xlsx › Mutation_site
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
33811063 (PubMed )
Supplement: supp_mcs.a005827_Supplemental_Table_S1.xlsx › Sheet1
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
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