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Patient derived model of <i>UBA5-</i> associated encephalopathy identifies defects in neurodevelopment and highlights potential therapies

2024-01-27

Abstract excerpt

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 org...

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Literature Corpus work
66cbc470-9573-5651-89c2-f403f2627530
DOI
10.1101/2024.01.25.577254
Open publication

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Patient derived model of <i>UBA5-</i> associated encephalopathy identifies defects in neurodevelopment and highlights potential therapiesDOI 10.1101/2024.01.25.577254
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