Results 141 to 150 of about 3,775 (171)

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
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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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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
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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
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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
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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
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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

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   +6 more sources

Lost in translation: cytoplasmic UBA1 and VEXAS syndrome

Blood, 2022
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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