UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway. Three disorders are associated with pathogenic variants of the UBA1 gene: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS)...
There are several human syndromes which involve defects of the limbs and the Müllerian ducts or its derivatives1–3. The hand-foot-genital (HFG) syndrome is an autosomal dominant, fully penetrant disorder that was originally described by Sternet al.4 Additional reports describing other affected fa...
24 Abstracts of 37th Annual Meeting A1 A SCREENING METHOD FOR FRAGILE X MUTATION: DETECTION OF THE CGG REPEAT IN FMR-1 GENE BY PCR WITH BIOTIN-LABELED PRIMER. 9 ..Eiji NANBA, K o u s a k u OHNO a n d K e n z o TAKESHITA Division of Child Neurology, Institute of Neurological ...
K. (2007). Mutation of the gene encoding the ubiquitin activating enzyme Uba1 causes tissue overgrowth in Drosophila. Fly 1, 95-105.Pfleger CM, Harvey KF, Yan H, Hariharan IK. Mutation of the gene encoding the ubiq- uitin activating enzyme Uba1 causes tissue overgrowth in Drosophila. ...
Background VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently identified autoinflammatory disease caused by de novo somatic mutations in the X-linked gene UBA1 (1). This disease is clinically characterized by inflammatory symptoms and bone marrow failure (2)....
Characteristic vacuolization of myeloid precursors and UBA1 mutation in a woman with monosomy Xdoi:10.1111/ijlh.13617Isabelle LuquetLaboratoire d'Hématologie, Centre Hospitalo-universitaire (CHU) de Toulouse Institut Universitaire du Cancer de Toulouse-Oncopole (IUCT-O) Toulouse FranceAli El Kassir...
A UBA1 mutation of uncertain significance was detected in the perivascular histiocytes, raising the possibility of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Following debridement and exclusion of an infective aetiology, the wound was managed with vacuum-assisted wound...
Somatic Mutation And Transcriptome Profiling Identifies The E1 Ubiquitin-activating Enzyme Uba1 As A Common Mutation Target In Radiation-induced Lymphomas In p53 Deficient Mouse ModelsY.R. LiE. FredlundK. HalliwillC. AdamsK.Y. JenR. del Rosario...
Sequences around the Uba1 mutation in tsTM3 cells.Kimihiko SugayaYoshie IshiharaSonoe InoueHideo Tsuji
VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosisYu TangHongfei CuiHongjun ZhaoHui LuoXiaoxia ZuoJunjiao WuGenes & Diseases