Results 171 to 180 of about 6,714 (194)

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.
exaly   +3 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

Mutation du gène UBA1 dans l’artérite à cellules géantes

La Revue de Médecine Interne, 2021
Introduction Le syndrome VEXAS (vacuoles, enzyme E1, liee a l’X, auto-inflammatoire, somatique), est associe a des mutations somatiques affectant la methionine-41 (pMet41) dans le gene de l’Ubiquitin-like modifier activating enzyme 1 (UBA1) situe sur le chromosome X [1] , [2] .
J. Rossignol, C. Marzac, A. Dellal, E. Solary, V. Jachiet, N. Belfeki, M. Slaoui, S. Georgin-Lavialle, D. Benarroche, O. Hermine, O. Fain, A. Mekinian   +11 more
openaire   +1 more source

Zebrafish Uba1 Degrades IRF3 through K48-Linked Ubiquitination to Inhibit IFN Production

The Journal of Immunology, 2021
Abstract Fish IFN regulatory factor 3 (IRF3) is a crucial transcription factor in the IFN activation signaling pathway, which leads to IFN production and a positive cycle. Unrestricted IFN expression results in hyperimmune responses and therefore, IFN must be tightly regulated.
Dan-Dan Chen, Jing-Yu Jiang, Long-Feng Lu, Can Zhang, Xiao-Yu Zhou, Zhuo-Cong Li, Yu Zhou, Shun Li   +7 more
openaire   +2 more sources

Pathogenic UBA1 variants associated with VEXAS syndrome in Japanese patients with relapsing polychondritis

Annals of the Rheumatic Diseases, 2021
To determine clinical and genetic features of individuals with relapsing polychondritis (RP) likely caused by pathogenic somatic variants in ubiquitin-like modifier activating enzyme 1 (UBA1).Fourteen patients with RP who met the Damiani and Levine criteria were recruited (12 men, 2 women; median onset age (IQR) 72.1 years (67.1-78.0)).
Naomi Tsuchida, Yosuke Kunishita, Yuri Uchiyama, Yohei Kirino, Makiko Enaka, Yukie Yamaguchi, Masataka Taguri, Shoji Yamanaka, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Satoshi Fujii, Hideaki Nakajima, Naomichi Matsumoto   +12 more
openaire   +2 more sources

UBA1 Mutations Identify a Rare but Distinct Subtype of Myelodysplastic Syndromes

Blood, 2023
Background Mutations in UBA1 are associated with VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome, an adult-onset inflammatory disorder (Beck DB et al. NEJM 2020). Approximately 40% of VEXAS patients are also diagnosed with myelodysplastic syndromes (MDS).
Sirenko, M, Bernard, E, Creignou, M, Domenico, D, Farina, A, Ossa, JEA, Kosmider, O, Hasserjian, R, Jädersten, M, Germing, U, Sanz, G, van de Loosdrecht, AA, Gurnari, C, Follo, MY, Thol, F, Zamora, L, Pellagatti, A, Elias, HK, Haase, D, Ganster, C, Ades, L, Tobiasson, M, Palomo, L, Della Porta, MG, Huberman, K, Fenaux, P, Belickova, M, Savona, MR, Klimek, VM, Santos, FPS, Boultwood, J, Kotsianidis, I, Santini, V, Francesc Solé, Platzbecker, U, Heuser, M, Valent, P, Finelli, C, Voso, MT, Shih, LY, Ogawa, S, Fontenay, M, Jansen, JH, Cervera, J, Ebert, BL, Bejar, R, Greenberg, PL, Gattermann, N, Malcovati, L, Cazzola, M, Beck, DB, Lindberg, EH, Papaemmanuil, E   +52 more
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Characteristic bone marrow findings in patients with UBA1 somatic mutations and VEXAS syndrome

Seminars in Hematology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a newly characterized syndrome with underlying somatic UBA1 mutations in myeloid cells linking hematologic disease with autoinflammatory rheumatologic disorders. Hematologic abnormalities, particularly peripheral blood cytopenia(s) may prompt bone marrow evaluation in patients with ...
Nisha Patel, Alina Dulau-Florea, Katherine R. Calvo   +2 more
openaire   +2 more sources

UBA1 gene mutation in giant cell arteritis

Clinical Rheumatology, 2022
Julien Rossignol, Christophe Marzac, Azeddine Dellal, Nabil Belfeki, Vincent Jachiet, Mounia Slaoui, Davy Benarroche, Sophie Georgin-Lavialle, Eric Solary, Olivier Hermine, Olivier Fain, Arsène Mekinian   +11 more
openaire   +2 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

Investigating UBA1 distribution and its relevance to Spinal Muscular Atrophy

The FASEB Journal, 2017
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by the degeneration of lower motor neurons. SMA is the most common genetic cause of infant mortality and is caused by a homozygous deletion of the Survival Motor Neuron 1 gene (SMN1). There is currently no effective therapy.
Maani, Amr, Shorrock, Hannah, Gillingwater, Tom   +2 more
openaire   +2 more sources