Nature Communications, 2023 UBA1 is the primary E1 ubiquitin-activating enzyme responsible for generation of activated ubiquitin required for ubiquitination, a process that regulates stability and function of numerous proteins.
Tuan Xu +2 more
exaly +4 more sources
Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]
JCI Insight, 2016 Acknowledgments Blood biochemistry analysis and serum analysis were performed by the Easter Bush Pathology Department, University of Edinburgh. Animal husbandry was performed by Centre for Integrative Physiology bio-research restructure technical staff ...
julien côme, Ross A Jones, Yinan Zheng
exaly +10 more sources
UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy [PDF]
Brain, 2018 Deafferentation of motor neurons as a result of defective sensory-motor connectivity is a critical early event in the pathogenesis of spinal muscular atrophy, but the underlying molecular pathways remain unknown.
Hannah K Shorrock +2 more
exaly +12 more sources
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 ...
Jason C Collins +2 more
exaly +5 more sources
UBA1 promotes cardiac hypertrophy by suppressing autophagy via targeting ATG5 for ubiquitination [PDF]
Cell Communication and SignalingBackground 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 +6 more
doaj +2 more sources
Cryo-EM structures of UBA6 reveal mechanisms of E1–E2 specificity and dual FAT10/ubiquitin thioester transfer [PDF]
Nature CommunicationsUBA1 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 +18 more
doaj +2 more sources
Joint involvement in VEXAS and non-VEXAS clonal haematopoiesis: two clusters from a multicentre regional cohort [PDF]
RMD OpenObjective: 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 +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 ImmunologyBackgroundVEXAS (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 +6 more
doaj +2 more sources
A fatal case of VEXAS syndrome with a brief review [PDF]
Journal of Vascular Surgery Cases and Innovative TechniquesVEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory condition characterized by somatic mutations in the X-linked UBA1 gene.
Grant Stoltman, BA +3 more
doaj +2 more sources
Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement [PDF]
Frontiers in ImmunologyVEXAS 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 +13 more
doaj +2 more sources