Results 91 to 100 of about 3,419 (164)

A conditional yeast E1 mutant blocks the ubiquitinproteasome pathway and reveals a role for ubiquitin conjugates in targeting Rad23 to the proteasome [PDF]

, 2007
E1 ubiquitin activating enzyme catalyzes the initial step in all ubiquitin-dependent processes. We report the isolation of uba1-204, a temperature-sensitive allele of the essential Saccharomyces cerevisiae E1 gene, UBA1.
Nazli Ghaboosi, Raymond J. Deshaies, Ghaboosi, Nazli, Deshaies, Raymond J.   +3 more
core  

Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality

ACR Open Rheumatology
VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid‐lineage progenitors ...
Laura Di Centa, Simone Longhino, Valeria Manfrè, Stefania Sacco, Luca Quartuccio   +4 more
doaj   +1 more source

VEXAS anemia is a mosaic erythroblastopenia

International audienceVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently discovered autoinflammatory disorder linked to somatic mutations in the UBA1 gene, resulting in a profound cytoplasm-restricted defect in ubiquitylation.
Kosmider, Olivier, Amireault, Pascal, Debili, Mounia, Jachiet, Vincent, Miccio, Annarita, Rossignol, Julien, Rodriguez, Manuel S, Allemand, Eric, Hardouin, Giulia, Gautier, Emilie-Fleur, Soler, Eric, O'Donohue, Marie-Françoise, Mekinian, Arsène, Peltier, Sandy, Rodrigues, François, El Hoss, Sara, Hermine, Olivier, Georgin-Lavialle, Sophie, Gleizes, Pierre-Emmanuel, Salma, Mohammad, Soldan, Vanessa, Dussiot, Michaël, Trovati Maciel, Thiago, Ghoul, Aya   +23 more
core   +1 more source

Clinical, laboratory and genetic characteristics of VEXAS syndrome: a study on behalf of GESMD

Frontiers in Immunology
VEXAS syndrome (‘Vacuoles’, ‘E1 enzyme’, ‘X-linked’, ‘Autoinflammatory’ and ‘Somatic’) is a rare autoinflammatory disorder caused by somatic mutations in the UBA1 (ubiquitin-like modifier-activating enzyme 1) gene whose treatment and prognosis remain ...
Marta Fonseca-Santos, Marta Fonseca-Santos, Marta Fonseca-Santos, Marta Fonseca-Santos, Marta Fonseca-Santos, Borja Puertas, Borja Puertas, Borja Puertas, Borja Puertas, Borja Puertas, Javier Arzuaga-Méndez, Javier Arzuaga-Méndez, Idoya Ancin-Arteaga, Idoya Ancin-Arteaga, Sandra Castaño-Diez, Sandra Castaño-Diez, Carlos De Miguel, Carlos De Miguel, Marta Canet-Maldonado, Marta Canet-Maldonado, Marc Bosch-Schips, Marc Bosch-Schips, Pablo Palomo-Rumschisky, Pablo Palomo-Rumschisky, María Laura Blanco, María Laura Blanco, Daniel Gil-Alós, Daniel Gil-Alós, María Moreno-Igoa, María Moreno-Igoa, Pedro G. Santa-Catalina, Raúl Azibeiro, Raúl Azibeiro, Raúl Azibeiro, Raúl Azibeiro, Raúl Azibeiro, Carlos Puerta, Carlos Puerta, Carlos Puerta, Carlos Puerta, Carlos Puerta, Alba Mesa-Tudela, Alba Mesa-Tudela, Felix López-Cadenas, Felix López-Cadenas, Esperanza Tuset, Esperanza Tuset, Dolly Viviana Fiallo-Suarez, Dolly Viviana Fiallo-Suarez, Fernando Ramos, Fernando Ramos, Maria Teresa Gimenez, Maria Teresa Gimenez, Valeria Peri, Valeria Peri, Karan Mayani, Karan Mayani, M. Ángeles Montañes-García, M. Ángeles Montañes-García, Ana Villalba, Ana Villalba, Jesus María Hernandez Rivas, Jesus María Hernandez Rivas, Jesus María Hernandez Rivas, Jesus María Hernandez Rivas, Jesus María Hernandez Rivas, Jesus María Hernandez Rivas, Marina Díaz-Beyá, Marina Díaz-Beyá, María Díez-Campelo, María Díez-Campelo, María Díez-Campelo, María Díez-Campelo, María Díez-Campelo, María Díez-Campelo   +74 more
doaj   +1 more source

Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement

Frontiers in Immunology
VEXAS syndrome is a rare and severe systemic inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene, primarily affecting men. Since its initial description in 2020, it has been recognized for its complex clinical phenotype and ...
Zhongbiao Fang, Zhongbiao Fang, Tingwei Xu, Meng Zhang, Chaonan Li, Chaonan Li, Anwen Zheng, Yudan Gu, Yudan Gu, Chuhan Lan, Zongming Liu, Zongming Liu, Lingling Tang, Lingling Tang   +13 more
doaj   +1 more source

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature

Open Access Rheumatology: Research and Reviews
Zeinab Alnahas,1 Sujata Sarkar,1 Kevin T Trowell,1 Lisa Soltani,2 Sreekanth Vasireddy1 1Tucson Medical Center, Tucson, AZ, USA; 2El Rio Community Health Center, Tucson, AZ, USACorrespondence: Zeinab Alnahas, Tucson Medical Center, 5301 E Grant Road ...
Alnahas Z, Sarkar S, Trowell KT, Soltani L, Vasireddy S   +4 more
doaj  

Deep Learning‐Based Blood Abnormalities Detection as a Tool for VEXAS Syndrome Screening

International audienceABSTRACT Introduction VEXAS is a syndrome described in 2020, caused by mutations of the UBA1 gene, and displaying a large pleomorphic array of clinical and hematological features.
Rault, Emmanuelle, Chevallier, Patrice, Kosmider, Olivier, Normand, Nicolas, Bauvais, Maxence, Graveleau, Julie, de Almeida Braga, Cédric, Garnier, Alice, Heiblig, Maël, Le Roc'H, Valentin, Richard, Camille, Le Calvez, Baptiste, Le Bris, Yannick, Eveillard, Marion, Jullien, Maxime, Sujobert, Pierre, Peterlin, Pierre, Bouzy, Simon, Néel, Antoine, Paul-Gilloteaux, Perrine, Hérault, Olivier   +20 more
core   +1 more source

VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation

Nature Communications
Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). However, the precise physiological and clinical impact of
Olivier Kosmider, Céline Possémé, Marie Templé, Aurélien Corneau, Francesco Carbone, Eugénie Duroyon, Paul Breillat, Twinu-Wilson Chirayath, Bénédicte Oules, Pierre Sohier, Marine Luka, Camille Gobeaux, Estibaliz Lazaro, Roderau Outh, Guillaume Le Guenno, François Lifermann, Marie Berleur, Melchior Le Mene, Chloé Friedrich, Cédric Lenormand, Thierry Weitten, Vivien Guillotin, Barbara Burroni, Jeremy Boussier, Lise Willems, Selim Aractingi, Léa Dionet, Pierre-Louis Tharaux, Béatrice Vergier, Pierre Raynaud, Hang-Korng Ea, Mickael Ménager, Darragh Duffy, Benjamin Terrier   +33 more
doaj   +1 more source

P14 | A rare case of VEXAS syndrome

Italian Journal of Medicine
Premises: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a rare late-onset autoinflammatory syndrome caused by a mutation in the UBA1 gene.
doaj   +1 more source

Orbitally Vexed

Genetic testing had revealed a Mel41Val missense mutation in a gene located in the UBA1 gene on the X- chromosome, in keeping with a diagnosis of VEXAS syndrome.
Blake Colman; Rogan Fraser; Evelyn Perry; Prashanth Ramachandran; Shivanand Sheth; Neil Shuey; Subahari Raviskanthan
core   +2 more sources