Article

Allelic strengths of encephalopathy-associated <i>UBA5</i> variants correlate between <i>in vivo</i> and <i>in vitro</i> assays

2023-07-23

Abstract excerpt

Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and ER stress. Variants in the UBA5 gene are associated with developmental and epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy, movement abnormalities, global developmental delay, intellectual disability, and seizures. DEE44 is caused by at least twelve differen...

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Literature Corpus work: bc54671b-7bc4-5647-97c4-00b5797dd194
DOI: 10.1101/2023.07.17.23292782

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