Results 181 to 190 of about 6,714 (194)

Mutant UBA1 and Severe Adult-Onset Autoinflammatory Disease

New England Journal of Medicine, 2021
Luzzatto, Lucio, Risitano, Antonio M, Notaro, Rosario   +2 more
openaire   +6 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
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Struktura a funkce ubikvitin-aktivačního enzymu UBA1

2023
Ubiquitin-activating enzyme, also known as UBA1, is an essential enzyme in the process of ubiquitin activation in all eukaryotic cells, and its loss, as well as complete disfunction, leads inevitably to death of an organism. In humans, nuclear (UBA1a) and cytoplasmic (UBA1b) isoforms are known. Ubiquitination, the process at the beginning of which UBA1
openaire   +1 more source

Lost in translation: cytoplasmic UBA1 and VEXAS syndrome

Blood, 2022
openaire   +2 more sources

Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome

British Journal of Haematology
SummaryVacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic (VEXAS) is a haemato‐inflammatory syndrome genetically defined by somatic mutations in the X‐linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato‐rheumatological treatments.
Carmelo Gurnari, Elisa Galossi, Eleonora Lumia, Alfonso Piciocchi, Mariadomenica Divona, Elisa Casciani, Francesca Romano, Elisa Diral, Alessandro Tomelleri, Federico Caroni, Antonio Vitale, Gregorio Maria Bergonzi, Annalisa Condorelli, Giorgia Battipaglia, Erika Morsia, Elena Crisà, Paola Triggianese, Arianna Savi, Chiara Cardamone, Matteo Dragani, Giulia Rivoli, Federica Pilo, Davide Firinu, Sara Plebani, Francesco D'Agostino, Alessandro D'Ambrosio, Katja Sockel, Cristina Papayannidis, Silvia Salmoiraghi, Fabrizio Pane, Monica Bocchia, Luca Cantarini, Marco Frigeni, Corrado Campochiaro, Lorenzo Dagna, Raffaella Greco, Fabio Ciceri, Orietta Spinelli, Christian Thiede, Maria Teresa Voso   +39 more
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UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review

Modern Rheumatology Case Reports, 2022
Pankaj Bansal
exaly  

Abstract 4629: QClampTM Plex VEXAS syndrome UBA1 mutation detection assay: A noval XNA based assay to simultaneously detect eight UBA1 somatic mutations associated with VEXAS syndrome

Cancer Research
Abstract VEXAS syndrome (acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a monogenic disease discovered in December 2020. It is an adult-onset systemic inflammatory disorder genetically characterized by somatic mutation of the UBA1 gene which encodes the ubiquitin like modifier activating enzyme 1. VEXAS patients
openaire   +1 more source

The pivotal role of ubiquitin-activating enzyme E1 (UBA1) in neuronal health and neurodegeneration

International Journal of Biochemistry and Cell Biology, 2020
Isabella A Lambert-Smith, Darren N Saunders, Justin J Yerbury   +2 more
exaly  

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

Neuromuscular Disorders, 2013
Nomazulu Dlamini, Thomas Jacques, Heinz Jungbluth   +2 more
exaly  

Preclinical evaluation of the selective small-molecule UBA1 inhibitor, TAK-243, in acute myeloid leukemia

Leukemia, 2018
Samir H Barghout, Simon Kavanagh, Ondrej Halgas   +2 more
exaly