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
Patient-derived models of UBA5-associated encephalopathy identify defects in neurodevelopment and highlight potential therapeutic avenues.
Chen H et al.
Science Translational Medicine, 2025
A novel compound heterozygous mutation of UFC1 in a patient with neurodevelopmental disorder.
Han Y et al.
Genes & Genomics, 2024
Patient derived model of UBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies.
Chen H et al.
Biorxiv : the Preprint Server for Biology, 2024
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
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
An N-Terminal Extension to UBA5 Adenylation Domain Boosts UFM1 Activation: Isoform-Specific Differences in Ubiquitin-like Protein Activation.
Soudah N et al.
Journal of Molecular Biology, 2019
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma.
Gopal RK et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice.
Tumienė B et al.
Clinical Genetics, 2018
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
Arnadottir GA et al.
Bmc Medical Genetics, 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