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Shared and distinct mechanisms of UBA1 inactivation across different diseases

Abstract Most cellular ubiquitin signaling is initiated by UBA1, which activates and transfers ubiquitin to tens of E2 enzymes. Clonally acquired UBA1 missense mutations cause an inflammatory-hematologic overlap disease called VEXAS (vacuoles, E1, X-linked, autoinflammatory, somatic) syndrome. Despi...

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Principais autores: Jason C Collins, Samuel J Magaziner, Maya English, Bakar Hassan, Xiang Chen, Nicholas Balanda, Meghan Anderson, Athena Lam, Sebastian Fernandez-Pol, Bernice Kwong, Peter L Greenberg, Benjamin Terrier, Mary E Likhite, Olivier Kosmider, Yan Wang, Nadine L Samara, Kylie J Walters, David B Beck, Achim Werner
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Nature 2024-02-01
coleção:The EMBO Journal
Assuntos:
UBA1
Ubiquitin
VEXAS Syndrome
Spinal Muscular Atrophy (SMA)
Lung Cancer in Never Smokers (LCINS)
Acesso em linha:https://doi.org/10.1038/s44318-024-00046-z
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