Article
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis.
Blood - 29 Sept 2022
Ferrada Marcela A, Savic Sinisa, Cardona Daniela Ospina, Collins Jason C, Alessi Hugh, Gutierrez-Rodrigues Fernanda, Kumar Dinesh Babu Uthaya, Wilson Lorena, Goodspeed Wendy, Topilow James S, Paik Julie J, Poulter James A, Kermani Tanaz A, Koster Matthew J, Warrington Kenneth J, Cargo Catherine, Tattersall Rachel S, Duncan Christopher J A, Cantor Anna, Hoffmann Patrycja, Payne Elspeth M, Bonnekoh Hanna, Krause Karoline, Cowen Edward W, Calvo Katherine R, Patel Bhavisha A, Ombrello Amanda K, Kastner Daniel L, Young Neal S, Werner Achim, Grayson Peter C, Beck David B
Abstract excerpt
Somatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a high mortality rate and significant clinical heterogeneity. We sought to determine independent predictors of survival in VEXAS and to understand the mechanistic basis...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.