Results 81 to 90 of about 3,812 (167)

Analysis of a temperature‐sensitive mutation in Uba1: Effects of the click reaction on subsequent immunolabeling of proteins involved in DNA replication

FEBS Open Bio, 2015
In our previous study, a Met‐to‐Ile substitution at amino acid 256 in the catalytic domain of Uba1 was determined in temperature‐sensitive CHO‐K1 mutant tsTM3 cells, which exhibited chromosomal instability and cell‐cycle arrest in the S to G2 phases with
Kimihiko Sugaya, Yoshie Ishihara, Sonoe Inoue   +2 more
doaj   +1 more source

Research Progress in VEXAS Syndrome

罕见病研究
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an adult-onset, X-linked clonal autoinflammatory disease caused by somatic mutations in the UBA1 gene, characterized by systemic inflammation accompanied by hematologic clonal ...
JIN Xianghong, XU Jin, CHEN Miao, ZHUANG Junling, SHEN Min   +4 more
doaj   +1 more source

VEXAS Syndrome and Alzheimer’s Disease—Are There Connections?

Brain Sciences
VEXAS syndrome and Alzheimer’s disease (AD), though distinct in clinical manifestations, share overlapping pathophysiological mechanisms, including systemic inflammation, protein misfolding, and vascular dysfunction.
Aleksandra Sowa, Marta Malicka, Magdalena Biernacka, Jan Aleksander Beszłej, Jerzy Leszek   +4 more
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VEXAS syndrome in a female with constitutional monosomy X

EULAR Rheumatology Open
: The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 gene in haematopoietic progenitor cells and predominantly affects elderly males. However,
Nikolas Ruffer, Simon Melderis, Olaf Determann, Lana Harder, Isabell Haase, Ina Kötter, Anja Lüdemann, Martin Krusche   +7 more
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SF3B1 -mutant mis-splicing of UBA1 confers a targetable therapeutic vulnerability through UBA1 inhibition

Abstract SF3B1 mutation-driven myelodysplastic syndromes (MDS- SF3B1 ) arise due to somatic mutation in the splicing factor SF3B1 gene.
Jonas Thier, Sophia Hofmann, Katharina M Kirchhof, Gabriele Todisco, Teresa Mortera-Blanco, Indira Barbosa, Ann-Charlotte Björklund, André G Deslauriers, Elli Papaemmanuil, Eirini P Papapetrou, Eva Hellström-Lindberg, Pedro L Moura, Vanessa Lundin   +12 more
openaire   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

PO:10:141 | A Case Study: Navigating the VEXAS Syndrome Mimickers

Reumatismo
Background. The recent identification of VEXAS syndrome has expanded the spectrum of late-onset autoinflammatory disorders associated with somatic mutations in UBA1 gene.
Società Italiana di Reumatologia
doaj   +1 more source

Downregulation of UBA1 expression in myelodysplastic neoplasm

Leukemia
Yue Wei, Hong Zheng, Ziyi Li, Pamela Pennington Lockyer, Faezeh Darbaniyan, Rashmi Kanagal-Shamanna, Hui Yang, Danielle Hammond, Guillermo Garcia-Manero   +8 more
openaire   +2 more sources

<i>UBA1-CDK16</i>: A female-specific chimeric RNA emerging through evolution and involved in immune regulation. [PDF]

Sci Adv
Shi X, Blackburn L, Singh S, Glowczyk-Gluc M, Tajammal A, Zahra S, Kumar S, Cornelison R, Liang C, Qin F, Liu A, Lin S, Tang Y, Elfman J, Manley T, Bullock T, Haverstick DM, Wu P, Li H.   +18 more
europepmc   +1 more source

P075 | ERYTHROID STIMULATING AGENTS IN VEXAS SYNDROME: A MULTICENTER RETROSPECTIVE STUDY OF AN ITALIAN VEXAS COHORT

Haematologica
Background: VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is an autoinflammatory disorder caused by UBA1 mutation. It manifests with inflammatory symptoms and commonly macrocytic anemia, which in up to 50% of cases meets WHO ...
G. Furnari, E. Diral, C. Campochiaro, F. Moretti, J. Ferrari, C. Elena, G. Battipaglia, S. Barbato, A. Vitale, M. Frigeni, F. Crisafulli, M. Frassi, C. Papayannidis, A. D. Romagnoli, C. Cattaneo, A. D’ambrosio, E. Morsia, P. Musto, G. Rivoli, M.E. Dragani, C. Toffalori, G.M. Bergonzi, G. Scorpio, A. Tomelleri, M.T. Voso, C. Gurnari, L. Vago, L. Dagna, F. Ciceri   +28 more
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