Article
Novel Somatic UBA1 Variant in a Patient With VEXAS Syndrome.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Jul 2023
Stiburkova Blanka, Pavelcova Katerina, Belickova Monika, Magaziner Samuel J, Collins Jason C, Werner Achim, Beck David B, Balajkova Veronika, Salek Cyril, Vostry Martin, Mann Herman, Vencovsky Jiri
Abstract excerpt
OBJECTIVE: Somatic mutations in UBA1 have recently been causally linked to a severe adult-onset inflammatory condition referred to as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Ubiquitin-activating enzyme E1 (UBA-1) is of fundamental importance to the modulation of ubiquitin homeostasis and to the majority of downstream ubiquitylation-dependent cellular processes. Direct sequencing...
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