Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

Allelic strengths of encephalopathy-associated UBA5 variants correlate between in vivo and in vitro assays

Protein UFMylation downstream of the E1 enzyme UBA5 plays essential roles in development and endoplasmic reticulum stress. Variants in the UBA5 gene are associated with developmental and epileptic encephalopathy 44 (DEE44), an autosomal recessive disorder characterized by early-onset encephalopathy,...

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Bibliographic Details
Main Authors: Xueyang Pan, Albert N Alvarez, Mengqi Ma, Shenzhao Lu, Michael W Crawford, Lauren C Briere, Oguz Kanca, Shinya Yamamoto, David A Sweetser, Jenny L Wilson, Ruth J Napier, Jonathan N Pruneda, Hugo J Bellen
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2023-12-01
Series:eLife
Subjects:
UBA5
developmental and epileptic encephalopathy
rare disease
UFMylation
allelic series
Online Access:https://elifesciences.org/articles/89891

Internet

https://elifesciences.org/articles/89891

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