Characterization of ubiquitin-activating enzyme Uba1 in the nucleus by its mammalian temperature-sensitive mutant. [PDF]
PLoS ONE, 2014 Temperature-sensitive (ts) CHO-K1 mutant tsTM3 exhibits chromosomal instability and cell-cycle arrest in the S to G2 phases with decreased DNA synthesis at the nonpermissive temperature, 39°C.
Kimihiko Sugaya +4 more
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Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy [version 1; referees: 2 approved] [PDF]
F1000Research, 2017 Background: X-linked spinal muscular atrophy (XL-SMA) results from mutations in the Ubiquitin-Like Modifier Activating Enzyme 1 (UBA1). Previously, four novel closely clustered mutations have been shown to cause this fatal infantile disorder affecting ...
Chris D. Balak +5 more
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Molecular Genetics & Genomic Medicine, 2021 Background Congenital cervical spinal muscular atrophy (CCSMA) is a rare, nonprogressive, neurogenic disorder characterized by symmetric arthrogryposis and motor deficits mainly confined to upper extremities. Since its first proposal by Darwish et al. 39
Jingwei Liu +3 more
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Yeast Augmented Network Analysis (YANA): a new systems approach to identify therapeutic targets for human genetic diseases [v1; ref status: indexed, http://f1000r.es/3gk] [PDF]
F1000Research, 2014 Genetic interaction networks that underlie most human diseases are highly complex and poorly defined. Better-defined networks will allow identification of a greater number of therapeutic targets.
David J. Wiley +6 more
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VEXAS syndrome: a new discovered systemic rheumatic disorder
Rheumatology, 2023 VEXAS syndrome is an adult-onset autoinflammatory disease associated with hematologic symptoms. The disease affects primarily males, and leads to death of a significant proportion of the patients.
Eugeniusz Józef Kucharz
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A novel XNA-based Luminex assay to detect UBA1 somatic mutations associated with VEXAS syndrome [PDF]
Practical Laboratory MedicineObjectives: Patients with VEXAS syndrome carry mutations of UBA1 gene coding for the E1 enzyme. The three most frequent mutations are p.M41T(122T > C), p.M41V (c.121A > G), and p.M41L (c.121A > C) in codon 41 of exon 3.
Yunqing Ma +7 more
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ImmunoVEXAS syndrome is a new disease entity with symptoms that can mimic hematological, rheumatic and dermatological diseases. It is important to take a multidisciplinary approach to patient care, taking into account genetic testing, in which the presence of ...
Dominika Majer +3 more
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Case report: VEXAS syndrome: first documented cases in Latin America [PDF]
Frontiers in HematologyIntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati +14 more
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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
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VEXAS syndrome with p.Met41Leu <i>UBA1</i> gene mutation misdiagnosed as tumid lupus: A series of 3 cases. [PDF]
JAAD Case RepMizes A, Ash MM, Richardson CT.
europepmc +4 more sources