Results 21 to 30 of about 3,775 (171)
Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis [PDF]
Blood, 2022 AbstractSomatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a high mortality rate and significant clinical heterogeneity.
Marcela A. Ferrada +31 more
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UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration [PDF]
Trends in Molecular Medicine, 2015 Neurodegenerative diseases are a leading cause of disability and early death. A common feature of these conditions is disruption of protein homeostasis. Ubiquitin-like modifier activating enzyme 1 (UBA1), the E1 ubiquitin-activating enzyme, sits at the apex of the ubiquitin cascade and represents an important regulator of cellular protein homeostasis ...
Groen, Ewout J N +1 more
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Uba1 functions in Atg7- and Atg3-independent autophagy [PDF]
Nature Cell Biology, 2013 Autophagy is a conserved process that delivers components of the cytoplasm to lysosomes for degradation. The E1 and E2 enzymes encoded by Atg7 and Atg3 are thought to be essential for autophagy involving the ubiquitin-like protein Atg8. Here, we describe an Atg7- and Atg3-independent autophagy pathway that facilitates programmed reduction of cell size ...
Chang, Tsun-Kai +6 more
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Evolution of the ubiquitin-activating enzyme Uba1 (E1) [PDF]
Physica A: Statistical Mechanics and its Applications, 2017 Ubiquitin tags diseased proteins and initiates an enzyme conjugation cascade, which has three stages. The first-stage enzyme Uba1 (E1) has evolved only modestly from slime mold to humans, and is > 14 times larger than Ub. Here we use critical point thermodynamic scaling theory to connect Uba1 (E1) evolution from yeast and slime mold to fruit flies ...
Allan, Douglas C., Phillips, J. C.
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VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder
Experimental Hematology & Oncology, 2021 VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in
Huijun Huang +12 more
doaj +1 more source
Acetylated Ubiquitin Modulates the Catalytic Activity of the E1 Enzyme Uba1 [PDF]
Biochemistry, 2021 Ubiquitin (Ub) signaling requires the covalent passage of Ub among E1, E2, and E3 enzymes. The choice of E2 and E3 enzymes combined with multiple rounds of the cascade leads to the formation of polyubiquitin chains linked through any one of the seven lysines on Ub. The linkage type and length act as a signal to trigger important cellular processes such
Rachel E. Lacoursiere, Gary S. Shaw
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Journal of Immunology Research, 2020 Background. Ubiquitin-like modifier activating enzyme 1 (UBA1) is the first and major E1 activating enzyme in ubiquitin activation, the initial step of the ubiquitin-proteasome system.
Jiawei Liao +6 more
doaj +1 more source
UBA1 and DNMT3A mutations in VEXAS syndrome. A case report and literature review [PDF]
Modern Rheumatology Case Reports, 2021 ABSTRACT Vacuoles, E1 enzyme, X linked, autoinflammatory, somatic (VEXAS) syndrome is a recently described X-linked autoinflammatory condition associated with somatic mutation of the ubiquitin-like modifier activating enzyme 1 (UBA1) gene.
Farah Shaukat +3 more
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Recruitment of ubiquitin-activating enzyme UBA1 to DNA by poly(ADP-ribose) promotes ATR signalling
Life Science Alliance, 2018 Human but not yeast UBA1 binds poly(ADP-ribose) polymers via a solvent-exposed and positively charged patch. Poly(ADP-ribose) polymerase 1–dependent recruitment of UBA1 to DNA ensures ataxia-telangiectasia and RAD3-related activation.
Ramhari Kumbhar +8 more
doaj +1 more source
Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease [PDF]
New England Journal of Medicine, 2020 Adult-onset inflammatory syndromes often manifest with overlapping clinical features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory disease, may define new disorders.We analyzed peripheral-blood exome sequence data independent of clinical phenotype and inheritance pattern to identify deleterious mutations in ubiquitin ...
David B. Beck +61 more
openaire +5 more sources