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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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Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer Nature 2024-02-01
Reeks:The EMBO Journal
Onderwerpen:
UBA1
Ubiquitin
VEXAS Syndrome
Spinal Muscular Atrophy (SMA)
Lung Cancer in Never Smokers (LCINS)
Online toegang:https://doi.org/10.1038/s44318-024-00046-z
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