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VEXAS is a hematopoietic disorder characterized by hyperinflammation,high mortality, and mutations at methionine 41 (M41) in the E1 ubiquitin enzyme, UBA1. Here, we developed ahuman model of VEXAS by engineering the male THP1 cell line to express the UBA1-M41V mutation. We found that UBA1-M41V cells...
ORGANISM(S): Homo sapiens (Human) 
2025-08-04 | PXD063067 | Pride
VEXAS is a hematopoietic disorder characterized by hyperinflammation,high mortality, and mutations at methionine 41 (M41) in the E1 ubiquitin enzyme, UBA1. Here, we developed ahuman model of VEXAS by engineering the male THP1 cell line to express the UBA1-M41V mutation. We found that UBA1-M41V cells...
ORGANISM(S): Homo sapiens (Human) 
2025-08-04 | PXD063068 | Pride
Transcriptomic profiling of VEXAS syndrome patients
UBA1 dependent inflammation in VEXAS is mediated by cGAS-STING
Single-cell profiling of hematopoietic cells in VEXAS syndrome
Single-cell RNA sequencing of blood cells from patients with VEXAS syndrome.
VEXAS (vacuoles, E1, X-linked, autoinflammatory, somatic) is a genetic disease caused by somatic mutations in UBA1, resulting in severe, systemic autoinflammation and hematologic manifestations. UBA1 encodes the E1 ubiquitin-activating enzyme, which is essential for initiating the majority of ubiqui...
ORGANISM(S): Homo sapiens 
2026-09-22 | GSE295539 | GEO
VEXAS syndrome is characterized by blood and tissues inflammasome pathway activation and monocyte dysregulation
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