Article

UBA1 Mutations Drive RIPK1-Mediated Cell Death and Monocyte Dysfunction in VEXAS Syndrome

2025-10-06

Abstract excerpt

VEXAS syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in UBA1 gene, disrupting cytoplasmic ubiquitin-activating enzyme E1 function in hematopoietic progenitors. The pathogenesis remains poorly understood, particularly how UBA1 mutations perturb myeloid function. Here, we combine a genetically engineered THP-1 monocytic model with ex vivo analyses of blood and tissue samples...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fee37359-e49d-5d65-b9e8-fb74dd356dc5
DOI: 10.1101/2025.10.06.680650

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

UBA1 Mutations Drive RIPK1-Mediated Cell Death and Monocyte Dysfunction in VEXAS SyndromeDOI 10.1101/2025.10.06.680650Read

Inflammatory cell death and monocyte dysfunction in VEXAS syndrome.Semantic proximity Read

VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation.Semantic proximity Read

VEXAS syndrome is characterized by blood and tissues inflammasome pathway activation and monocyte dysregulationSemantic proximity Read

Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome.Semantic proximity Read

RIPK3-RNASE1 axis as a potential therapeutic and clinical monitoring target in VEXAS syndromeSemantic proximity Read

VEXAS syndrome.Semantic proximity Read

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndromeSemantic proximity Read

Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndromeSemantic proximity Read

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.Semantic proximity Read

VEXAS syndrome: a comprehensive review of pathogenesis, clinical spectrum, and therapeutic strategies.Semantic proximity Read

Characterization of E1 enzyme dependencies in mutant-UBA1 human cells reveals UBA6 as a novel therapeutic target in VEXAS syndrome.Semantic proximity Read

VEXAS anemia is a mosaic erythroblastopeniaSemantic proximity Read