Results 141 to 150 of about 2,418 (172)

Cryo-EM structures of UBA6 reveal mechanisms of E1-E2 specificity and dual FAT10/ubiquitin thioester transfer. [PDF]

Nat Commun
Nayak D, Jia L, Dos Santos Bury P, Ruben EA, Shukla A, Nayak A, Stratton CM, Ebadi P, Cho H, Tumanova AA, Varughese JT, Yuan L, Gao F, Cano KE, Davies C, Sung P, Gack MU, Wasmuth EV, Olsen SK.   +18 more
europepmc   +1 more source

Monitoring Variant Allele Fraction in VEXAS Syndrome: A Comparison of Digital PCR and Next-Generation Sequencing. [PDF]

EJHaem
Exposito-Bey A, Montes-Cano MA, Payán-Pernía S, García-Lozano JR, González-Escribano MF.   +4 more
europepmc   +1 more source

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular Disorders, 2013
Infantile-onset X-linked spinal muscular atrophy (SMAX2) is a rare lethal disorder linked to mutations in the UBA1 (previously UBE1) gene, encoding ubiquitin-activating enzyme 1 that has an important role in the ubiquitin-proteasome pathway. Published pathological reports are scarce.
Nomazulu Dlamini, Simon Paine, Matthew Pitt   +2 more
exaly   +5 more sources

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UBA1 gene mutation in giant cell arteritis

Clinical Rheumatology, 2022
Julien Rossignol, N Belfeki, Vincent Jachiet   +2 more
exaly   +3 more sources

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

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

Mutation of the Gene Encoding the Ubiquitin Activating Enzyme Uba1 Causes Tissue Overgrowth in Drosophila [PDF]

Fly, 2007
Protein ubiquitination has been shown to regulate a wide variety of cellular process including cell cycle progression, protein trafficking and apoptosis. Most regulation of ubiquitination occurs at the level of E2 or E3 enzymes and their interactions with specific substrates. In a screen for mutations that cause tissue overgrowth, we recovered multiple
Cathie M Pfleger, Kieran F Harvey, Iswar K Hariharan   +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

P01 Severe adult-onset inflammatory disorder with associated UBA1 somatic mutation

British Journal of Dermatology, 2023
Abstract A 70-year-old man was admitted to the hospital with a 2-week history of fatigue, florid erythematous maculopapular rash, elevated inflammatory markers and thrombocytopenia. A skin biopsy was performed that showed features in keeping with Sweet syndrome, which was initially thought to relate to concurrent gastrointestinal sepsis.
Evangelia Vetsiou, Steve Smith, Karina Forde, Sarah McDonald, Duncan Brian, Andre Khoo   +5 more
openaire   +1 more source