Results 31 to 40 of about 6,714 (194)
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
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
Frontiers in Pediatrics, 2020 Background: Infantile X-linked spinal muscular atrophy (SMAX2) is a rare type of spinal muscular atrophy associated with UBA1 variants.Methods: Clinical imaging and neurophysiological tests were performed on a Chinese patient with SMAX2. Further, focused
Xin Hua Wang +3 more
doaj +1 more source
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
BMC Rheumatology, 2022 Background VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is a recently described syndrome caused by a somatic missense variant at the methionine-41 (p.(Met41)) position in the ubiquitin-like modifier activating enzyme
Matheus V. M. B. Wilke +8 more
doaj +1 more source
Synergistic recruitment of UbcH7~Ub and phosphorylated Ubl domain triggers parkin activation [PDF]
, 2018 The E3 ligase parkin ubiquitinates outer mitochondrial membrane proteins during oxidative stress and is linked to early-onset Parkinson’s disease. Parkin is autoinhibited but is activated by the kinase PINK1 that phosphorylates ubiquitin leading to ...
Aguirre, Jacob D. +9 more
core +1 more source
A Molecular Basis for Stabilization of the von Hippel-Lindau (VHL) Tumor Suppressor Protein by Components of the VHL Ubiquitin Ligase [PDF]
, 2002 The multiprotein von Hippel-Lindau (VHL) tumor suppressor (CBCVHL, Cul2-Elongin BC-VHL) and SCF (Skp1-Cul1/Cdc53-F-box protein) complexes are members of structurally related families of E3 ubiquitin ligases that use a heterodimeric module composed of a ...
Brower, Christopher S. +3 more
core +2 more sources
VEXAS syndrome with cutaneous nodules
Dermatology Reports, 2021 Recently, a rare severe autoinflammatory Vacuoles, E1 enzyme, X-linked, autoinflammatory, Somatic (VEXAS) syndrome caused by somatic variants in the UBA1 gene was discovered.
Yahya Argobi
doaj +1 more source
Cell Death and Disease, 2021 Glioblastoma multiforme (GBM) is an extremely aggressive brain tumor for which new therapeutic approaches are urgently required. Unfolded protein response (UPR) plays an important role in the progression of GBM and is a promising target for developing ...
Guanzheng Liu +13 more
doaj +1 more source
A general strategy for discovery of inhibitors and activators of RING and U-box E3 ligases with ubiquitin variants [PDF]
, 2017 RING and U-box E3 ubiquitin ligases regulate diverse eukaryotic processes and have been implicated in numerous diseases, but targeting these enzymes remains a major challenge.
Ahmed, Syed Feroj +8 more
core +3 more sources