Results 141 to 150 of about 3,812 (167)

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

Non-coding variants in UBA1 lead to vexas

Blood
Abstract Introduction: Somatic mutations in UBA1, encoding an E1 ubiquitin activating enzyme, have recently been linked to an adult-onset, severe inflammation syndrome called VEXAS (Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic).
Maria Sirenko, Flore Castellan, Samuel Magaziner, Deborah Hernandez, Matthew J Koster, Olivier Kosmider, Iannis Aifantis, Achim Werner, David Beck   +8 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

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

Lost in translation: cytoplasmic UBA1 and VEXAS syndrome

Blood, 2022
openaire   +2 more sources

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

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
openaire   +7 more sources

UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review

Modern Rheumatology Case Reports, 2022
Pankaj Bansal, Timothy Burns
exaly  

Identification of UBA1 as the causative gene of an X‐linked non‐Kennedy spinal–bulbar muscular atrophy

European Journal of Neurology, 2022
Elahe Elahi, Najmeh Salehi, Shahriar Nafissi   +2 more
exaly  

Understanding the role of UBA1 in the pathogenesis of spinal muscular atrophy

2018
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by widespread loss of lower motor neurons from the spinal cord. Lower motor neuron degeneration leads to a progressive decline in motor development, manifesting as muscle atrophy and weakness.
openaire   +1 more source