Results 31 to 40 of about 3,419 (164)

Spanish cohort of VEXAS syndrome: clinical manifestations, outcome of treatments and novel evidences about UBA1 mosaicism [PDF]

, 2023
Background: The vacuoles, E1-enzyme, X linked, autoinflammatory and somatic (VEXAS) syndrome is an adult-onset autoinflammatory disease (AID) due to postzygotic UBA1 variants.
Solís Moruno, Manuel, 1993-, Bonet, Núria, Magri, Giuliana, 1978-, Fornas Carreño, Oscar, Aróstegui Gorospe, Juan Ignacio, Mascaró, Jose Manuel, Cerutti, Andrea, 1965-, Tejedor Vaquero, Sonia, 1988-   +7 more
core   +2 more sources

Ubiquitin-Like Modifier Activating Enzyme 1 as a Novel Diagnostic and Prognostic Indicator That Correlates With Ferroptosis and the Malignant Phenotypes of Liver Cancer Cells

Frontiers in Oncology, 2020
PurposeFerroptosis is a type of cell death that is iron dependent, a characteristic that distinguishes it from necrosis, apoptosis, and autophagy. However, the ferroptotic mechanisms for hepatitis B virus-associated hepatocellular carcinoma (HCC) remain ...
Yiru Shan, Guang Yang, Haixia Huang, Yehan Zhou, Xiangyu Hu, Qiuhong Lu, Peng Guo, Jun Hou, Li Cao, Fuhua Tian, Qi Pan, Qi Pan   +11 more
doaj   +1 more source

A Pathogenic Missense Variant (c.1617G>A, p.Met539Ile) in UBA1 Causing Infantile X-Linked Spinal Muscular Atrophy (SMAX2)

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, Lin Mei Zhang, Xue Yang, Shui Zhen Zhou   +3 more
doaj   +1 more source

VEXAS Syndrome—Review

Global Medical Genetics, 2023
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined refractory adult-onset autoinflammatory syndrome caused by somatic mutations in the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene in hematopoietic stem
Zhang Zhang, Dong Dong, Wang Wang
doaj   +1 more source

P496 X- linked infantile spinal muscular atrophy (smax2) caused by novel c.1681g>a substitution in the uba1 gene, expanding the phenotype [PDF]

Abstracts, 2019
Aims We report the case of a male infant who presented following a normal pregnancy with typical symptoms of X-linked infantile spinal muscular atrophy including hypotonia, weakness, areflexia and respiratory insufficiency, however contractures were absent.
Niamh Shaughnessy, Eva B Forman, Declan O’ Rourke, Sally Ann Lynch, Lynch Bryan   +4 more
openaire   +1 more source

Adult-onset autoinflammation caused by somatic mutations in UBA1:A Dutch case series of patients with VEXAS [PDF]

, 2022
Background: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytopenia,
Heijstek, Marloes, Beck, David B., van der Made, C.I., van de Veerdonk, F.L., Kwakernaak, A J, van Paassen, Pieter, van Gijn, Marielle E., Beck, David B, Kwakernaak, A.J., van der Made, Caspar I., Kwakernaak, Arjan J., Leavis, Helen L., Hak, A E, Rutgers, A., Hoogstins, Annemiek, Simons, Annet, Netea, M.G., Elizabeth Hak, A., van der Veken, Lars T, van de Veerdonk, Frank L., Willems, Huub P J, van Gijn, Marielle E, van Paassen, P., Rutgers, Abraham; id_orcid, Netea, Mihai G, van Gijn, M.E., Leavis, Helen L, Potjewijd, J., Hoischen, Alexander, Heijstek, M., Willems, Huub P.J., de Sevaux, Ruud G L, van der Made, Caspar I, Rutgers, Abraham, de Sevaux, R.G.L., Beck, D.B., van Daele, Paul L.A., van Daele, Paul L A, van der Veken, Lars T., Hoogstins, A., van Daele, P.L.A., Leavis, H.L., Simons, A., Netea, Mihai G., Willems, H.P.J., Hoischen, A., de Sevaux, Ruud G.L., Potjewijd, Judith, van Daele, Paul L.A.; id_orcid, van der Veken, L.T., Hak, A.E., van der Veerdonk, Frank L   +51 more
core   +1 more source

Current status and prospects of diagnosis and treatment of VEXAS syndrome [PDF]

Zhenduanxue lilun yu shijian
VEXAS (Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently recognized autoinflammatory disease involving multiple systems, caused by somatic mutations in the ubiquitin-like modifier activating enzyme 1 (UBA1) gene.
QIAN Haozhou, CHANG Chunkang
doaj   +1 more source

Characterization of the ubiquitylating components of the human malaria parasite's protein degradation pathway. [PDF]

PLoS ONE, 2012
Ubiquitin-dependent protein degradation within malarial parasites is a burgeoning field of interest due to several encouraging reports of proteasome inhibitors that were able to confer antimalarial activity. Despite the growing interest in the Plasmodium
Duk-Won D Chung, Nadia Ponts, Jacques Prudhomme, Elisandra M Rodrigues, Karine G Le Roch   +4 more
doaj   +1 more source

The VEXAS Syndrome: Uncontrolled Inflammation and Macrocytic Anaemia in a 77-Year-Old Male Patient

European Journal of Case Reports in Internal Medicine, 2021
The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described X-linked autoinflammatory condition caused by a somatic mutation of the UBA1 gene and characterized by an evolving phenotype. This includes inflammatory
Andreas Himmelmann, Rolf Brücker
doaj   +1 more source

RNF138‐Mediated Ubiquitination and Degradation of NS5 Restricts Tick‐Borne Encephalitis Virus Infection

Advanced Science, EarlyView.
Host‐specific compatibility between RNF138‐like proteins and flavivirus NS5 determines NS5 stability. Mammalian RNF138 but not arthropod homologs recognizes and induces conserved NS5/RdRp K48‐linked ubiquitination and proteasomal degradation, thereby restricting viral replication. Ectopic RNF138 in mice attenuates TBEV‐induced pathogenesis. (Created in
Jialiang Sun, Weijing Yang, Hao Zhou, Shuai Li, Xin Jiang, Jianyang Gu, Wenyan Zhang   +6 more
wiley   +1 more source