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UBA1 is the primary E1 ubiquitin-activating enzyme, regulating stability and function of numerous proteins via initiating their ubiquitination. Decreased or insufficient ubiquitination can cause or drive aging and many deadly diseases. Therefore, a small-molecule UBA1 activity enhancer could have br...
ORGANISM(S): Homo sapiens (Human) 
2023-07-10 | PXD042558 | Pride
UBA1 initiates most cellular ubiquitin signaling by activating and transferring ubiquitin to tens of E2 enzymes. Clonally acquired UBA1 missense mutations cause a severe inflammatory-hematologic overlap disease called VEXAS (vacuoles, E1, X-linked autoinflammatory, somatic) syndrome. Despite extensi...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
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
Downregulation of UBA1 Expression in Myelodysplastic Syndrome
UBA1 knockdown impairs muscle function in Drosophila and mice and dysregulates the levels of UBA1-sensitive proteins [Drosophila]
UBA1 knockdown impairs muscle function in Drosophila and mice and dysregulates the levels of UBA1-sensitive proteins [mouse]
Independent mechanisms of myeloid bias and inflammation driven by UBA1 mutation
Dysregulation of protein homeostasis by mutant UBA1 in VEXAS syndrome [RNA-seq]
UBA1 dependent inflammation in VEXAS is mediated by cGAS-STING
Dysregulation of protein homeostasis by mutant UBA1 in VEXAS syndrome [WES]
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