Results 131 to 140 of about 3,812 (167)

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms. [PDF]

Leukemia
Thier J, Hofmann S, Kirchhof KM, Todisco G, Mortera-Blanco T, Lilienthal I, Kanellis DC, Barbosa I, Björklund AC, Deslauriers AG, Bartek J, Herold N, Papaemmanuil E, Papapetrou EP, Hellström-Lindberg E, Moura PL, Lundin V.   +16 more
europepmc   +1 more source

[VEXAS syndrome mimicking relapsing polychondritis: A case report]. [PDF]

Beijing Da Xue Xue Bao Yi Xue Ban
Dong Q, He J, Jia Y, Yao H, Zhang X.
europepmc   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Three UBA1 clones for a unique VEXAS syndrome

Rheumatology, 2023
Dear Editor, The VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently described autoinflammatory disease characterized by mutations in the E1 ubiquitin-activating enzyme encoded by the UBA1 gene [1]. Clinico-biological findings include haematological abnormalities, treatment-refractory inflammatory syndrome, skin ...
Podvin, Benjamin, Cleenewerck, Nathalie, Nibourel, Olivier, Marceau-Renaut, Alice, Roynard, Pauline, Preudhomme, Claude, Duployez, Nicolas, Terriou, Louis   +7 more
openaire   +2 more sources

The functional role of UBA1 cysteine-278 in ubiquitination

Biochemical and Biophysical Research Communications, 2012
Although total UBA1 levels were unchanged, after oxidation for 60 min, we observed dramatic changes in the levels of BIAM-labeled UBA1 in both the membrane and cytosol fractions that suggested oxidative stress induces translocation of UBA1 from the cytosol to the membrane.
Ung, Yang, Hee-Young, Yang, Jeong-Sun, Kim, Tae-Hoon, Lee   +3 more
openaire   +2 more sources

Pathogenic UBA1 variants define a subset of relapsing polychondritis

Nature Reviews Rheumatology, 2021
Two new studies have identified mutations in UBA1 associated with the newly identified condition VEXAS syndrome in cohorts of patients with relapsing polychondritis, supporting the concept that relapsing polychondritis is more than one disease.
openaire   +2 more sources

Lycorine hydrochloride directly targets UBA1 to suppress cellular senescence

Acta Pharmaceutica Sinica B
Xiaojun Xu, Zhiyong Mao, Ying Jiang
exaly   +4 more sources

Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy X

International Journal of Laboratory Hematology, 2021
No abstract ...
Luquet, Isabelle, El Kassir, Ali, Sailler, Laurent, Largeaud, Laetitia, Mansat-de Mas, Véronique   +4 more
openaire   +2 more sources

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

New England Journal of Medicine, 2020
Kyle Retterer, Amanda Ombrello, Robert Colbert   +2 more
exaly   +2 more sources

Rapid Screening and Monitoring of UBA1 Mutations in VEXAS Syndrome

The Journal of Molecular Diagnostics
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a severe adult-onset autoinflammatory disease associated with hematologic conditions, such as myelodysplastic syndrome. VEXAS is mostly due to an acquired mutation affecting methionine 41 (p.M41) of the UBA1 gene, which is present in >90% of patients and usually at a high burden ...
Iván Martín Castillo, Elvira Mora, Rafael Hernani, Jose V. Cervera, María J. Fernandez, Blanca Ferrer-Lores, Esperanza Such, Marisa Calabuig, Rosario Abellán, Marina Díaz-Beyá, Juan C. Hernández-Boluda, Carlos Solano, Eva Villamón, Mar Tormo   +13 more
openaire   +5 more sources

Downregulation of UBA1 in Myelodysplastic Syndrome

Blood, 2022
Yue Wei, Rashmi Kanagal-Shamanna, Hong Zheng, Pamela Lockyer, Faezeh Darbaniyan, Ziyi Li, Kim-Anh Do, Guillermo Garcia-Manero   +7 more
openaire   +1 more source