Associated Papers
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 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
The Ufm1-activating enzyme Uba5 is indispensable for erythroid differentiation in mice.
Tatsumi K et al.
Nature Communications, 2011
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