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 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 abnormali...

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Detalles Bibliográficos
Autores principales: Pan, Xueyang, Alvarez, Albert N., Ma, Mengqi, Lu, Shenzhao, Crawford, Michael W., Briere, Lauren C., Kanca, Oguz, Yamamoto, Shinya, Sweetser, David A., Wilson, Jenny L., Napier, Ruth J., Pruneda, Jonathan N., Bellen, Hugo J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371176/
https://www.ncbi.nlm.nih.gov/pubmed/37502976
http://dx.doi.org/10.1101/2023.07.17.23292782

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