Article

Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases

2023-10-10

Abstract excerpt

<h4>Summary</h4> 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. Despite extensive clinical investigation into this lethal disease, little is known about the underlying molecula...

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Literature Corpus work: 494f8567-4c07-568c-b9dd-4b4089d2a10a
DOI: 10.1101/2023.10.10.561769

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