Fifth Publication of the network by Maki Sakuma at MLL
Publications
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We are excited to share the latest publication by our ESR Maki Sakuma on VEXAS Syndrome: an emerging hematoinflammatory disorder caused by partial loss-of-function mutations in UBA1, an X-linked gene crucial for ubiquitin modification. VEXAS predominantly affects older males and is characterized by severe inflammation, cytopenias, and associations with hematologic malignancies.
This review highlights the molecular impact of UBA1 mutations and advances in VEXAS research, focusing on inflammation, cytopenias, clonality, and oncogenicity. Specially, Maki presents the oncogenic effect of VEXAS mutations on cells of bone marrow and the associated diagnosis of MDS. Finnaly, she explores current and potential therapies, including azacitidine, novel UBA1 inhibitors, PERK inhibitors, and auranofin.
Read more about these important insights here: https://www.oncotarget.com/article/28646/text/.