Results 1 to 10 of about 3,812 (167)

Shared and distinct mechanisms of UBA1 inactivation across different diseases

EMBO Journal, 2023
Most cellular ubiquitin signaling is initiated by UBA1, which activates and transfers ubiquitin to tens of E2 enzymes. Clonally acquired UBA1 missense mutations cause an inflammatory-hematologic overlap disease called VEXAS (vacuoles, E1, X-linked ...
Nadine L Samara, Kylie Walters, Sebastian Fernandez-Pol   +2 more
exaly   +5 more sources

Trisomy 8 clonal expansion during disease progression and azacitidine resistance in VEXAS syndrome: a case report [PDF]

Frontiers in Immunology
BackgroundVacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder driven by clonal hematopoiesis with somatic UBA1 mutations.
Keijiro Sato, Yoshitaka Zaimoku, Yoshitaka Zaimoku, Yui Kano, Miku Kobayashi, Shintaro Kazama, Takahiro Morikawa, Hiroko Kazumoto, Wataru Ishii, Toshimitsu Ueki, Masahiko Sumi, Hikaru Kobayashi, Yasuhito Nannya, Seishi Ogawa, Seishi Ogawa, Seishi Ogawa, Naoaki Ichikawa   +16 more
doaj   +2 more sources

UBA1 promotes cardiac hypertrophy by suppressing autophagy via targeting ATG5 for ubiquitination [PDF]

Cell Communication and Signaling
Background Pathological cardiac hypertrophy frequently leads to heart failure (HF). UBA1, the key E1 ubiquitin-activating enzyme, initiates ubiquitin-proteasome signaling and contributes to various diseases, yet its mechanism in cardiac hypertrophy ...
Qiu-Yue Lin, Wei-Jia Yu, Jia-Xin Li, Wen-Xi Jiang, Shu-Jing Liu, Hai-Lian Bi, Hui-Hua Li   +6 more
doaj   +2 more sources

A rapid, accessible real-time PCR approach to identify UBA1 somatic mutations in VEXAS syndrome [PDF]

Frontiers in Medicine
BackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe adult-onset autoinflammatory disease caused by somatic mutations in the X-linked UBA1 gene, most commonly affecting codon 41.
Luisa Agnello, Luisa Agnello, Caterina Maria Gambino, Caterina Maria Gambino, Lidia La Barbera, Anna Masucci, Roberta Vassallo, Francesco Cacciabaudo, Mauro Midiri, Concetta Scazzone, Anna Maria Ciaccio, Giuliana Guggino, Marcello Ciaccio, Marcello Ciaccio   +13 more
doaj   +2 more sources

Clinical characteristics and a screening tool for VEXAS syndrome: a case-control study from China [PDF]

Orphanet Journal of Rare Diseases
Background VEXAS syndrome is a severe autoinflammatory disease characterized by systemic inflammation, rheumatic manifestations, and hematologic abnormalities. Its clinical heterogeneity and overlap with other conditions complicate diagnosis.
Menghui Yao, Min Shen, Chengjin Huang, Yang Jiao, Yue Sha, Xianyong Jiang, Xiaoxi Yang, Jun Feng, Na Xu, Weiguo Zhu, Valentin Lacombe, Jose Manuel Mascaro, Juan I. Arostegui, Yun Zhang, Xuejun Zeng   +14 more
doaj   +2 more sources

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

Nature Communications
UBA1 and UBA6 define parallel ubiquitin (Ub) activation systems that perform non-overlapping roles in Ub and ubiquitin-like protein (Ubl) signaling. Whereas UBA1 supports the canonical Ub pathway, UBA6 also activates the Ubl FAT10, linking Ub signaling ...
Digant Nayak, Lijia Jia, Priscila dos Santos Bury, Eliza A. Ruben, Ankita Shukla, Anindita Nayak, Caleb M. Stratton, Pirouz Ebadi, Hee Cho, Anna A. Tumanova, Joyce T. Varughese, Lingmin Yuan, Fei Gao, Kristin E. Cano, Christopher Davies, Patrick Sung, Michaela U. Gack, Elizabeth V. Wasmuth, Shaun K. Olsen   +18 more
doaj   +2 more sources

Neutrophils take center stage in VEXAS syndrome pathogenesis [PDF]

The Journal of Clinical Investigation
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an adult-onset inflammatory disorder caused by somatic UBA1 mutations in hematopoietic stem cells. UBA1 encodes a key enzyme that catalyzes protein ubiquitination.
Ajay Tambralli, Jason S. Knight
doaj   +2 more sources

UBA1-depleted neutrophils disrupt immune homeostasis and induce VEXAS-like autoinflammatory disease in mice [PDF]

The Journal of Clinical Investigation
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a hemato-rheumatoid disease caused by somatic UBA1 mutations in hematopoietic stem cells (HSCs). The pathogenic cell type(s) responsible for the syndrome are unknown, and murine
Ge Dong, Jingjing Liu, Wenyan Jin, Hongxi Zhou, Yuchen Wen, Zhiqin Wang, Keyao Xia, Jianlin Zhang, Linxiang Ma, Yunxi Ma, Lorie Chen Cai, Qiufan Zhou, Huaquan Wang, Wei Wei, Ying Fu, Zhigang Cai   +15 more
doaj   +2 more sources

Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort [PDF]

RMD Open
Objective: To describe the joint manifestations associated with clonal haematopoiesis and to compare patients with and without VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome.
Olivier Vittecoq, Fabrice Jardin, Thierry Lequerre, Ygal Benhamou, Vincent Langlois, Baptiste de Maleprade, Gaetan Sauvetre, Pauline Brevet, Fabien Jastrzebski, Benjamin Membrey, Marine Avenel, Alexandre Curie, Guillaume Armengol, Aspasia Stamatoullas-Bastard   +13 more
doaj   +2 more sources

Case Report: Early-onset VEXAS syndrome with recurrent pulmonary inflammation and myelodysplasia: a diagnostic and therapeutic challenge [PDF]

Frontiers in Immunology
BackgroundVEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly recognized adult-onset autoinflammatory disorder caused by somatic mutations in the UBA1 gene. It typically presents in older males with systemic inflammation,
Xianghong Jin, Xianyong Jiang, Yaping Liu, Miao Chen, Jiayuan Dai, Jin Xu, Min Shen   +6 more
doaj   +2 more sources