Patient derived model ofUBA5-associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies
Helen Chen,
Yong-Dong Wang,
Aidan W. Blan
et al.
Abstract:UBA5 encodes for the E1 enzyme of the UFMylation cascade, which plays an essential role in ER homeostasis. The clinical phenotypes of UBA5-associated encephalopathy include developmental delays, epilepsy and intellectual disability. To date, there is no humanized neuronal model to study the cellular and molecular consequences of UBA5 pathogenic variants. We developed and characterized patient-derived cortical organoid cultures and identified defects in GABAergic interneuron development. We demonstrated aberran… Show more
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