Results 31 to 40 of about 3,812 (167)

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, Sophie Vidal-Eychenié, Dimitrios-Georgios Kontopoulos, Marion Larroque, Christian Larroque, Jihane Basbous, Sofia Kossida, Cyril Ribeyre, Angelos Constantinou   +8 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

Functional characterizations of rare UBA1 variants in X-linked Spinal Muscular Atrophy [version 1; referees: 2 approved]

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, Jesse M. Hunter, Mary E. Ahearn, David Wiley, Gennaro D'urso, Lisa Baumbach-Reardon   +5 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, Marcela A. Ferrada, Keith A. Sikora, Amanda K. Ombrello, Jason C. Collins, Wuhong Pei, Nicholas Balanda, Daron L. Ross, Daniela Ospina Cardona, Zhijie Wu, Bhavisha Patel, Kalpana Manthiram, Emma M. Groarke, Fernanda Gutierrez-Rodrigues, Patrycja Hoffmann, Sofia Rosenzweig, Shuichiro Nakabo, Laura W. Dillon, Christopher S. Hourigan, Wanxia L. Tsai, Sarthak Gupta, Carmelo Carmona-Rivera, Anthony J. Asmar, Lisha Xu, Hirotsugu Oda, Wendy Goodspeed, Karyl S. Barron, Michele Nehrebecky, Anne Jones, Ryan S. Laird, Natalie Deuitch, Dorota Rowczenio, Emily Rominger, Kristina V. Wells, Chyi-Chia R. Lee, Weixin Wang, Megan Trick, James Mullikin, Gustaf Wigerblad, Stephen Brooks, Stefania Dell’Orso, Zuoming Deng, Jae J. Chae, Alina Dulau-Florea, May C.V. Malicdan, Danica Novacic, Robert A. Colbert, Mariana J. Kaplan, Massimo Gadina, Sinisa Savic, Helen J. Lachmann, Mones Abu-Asab, Benjamin D. Solomon, Kyle Retterer, William A. Gahl, Shawn M. Burgess, Ivona Aksentijevich, Neal S. Young, Katherine R. Calvo, Achim Werner, Daniel L. Kastner, Peter C. Grayson   +61 more
openaire   +5 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

Ubiquitination of basal VEGFR2 regulates signal transduction and endothelial function

Biology Open, 2017
Cell surface receptors can undergo recycling or proteolysis but the cellular decision-making events that sort between these pathways remain poorly defined.
Gina A. Smith, Gareth W. Fearnley, Izma Abdul-Zani, Stephen B. Wheatcroft, Darren C. Tomlinson, Michael A. Harrison, Sreenivasan Ponnambalam   +6 more
doaj   +1 more source

Exome sequencing can misread high variant allele fraction of somatic variants in UBA1 as hemizygous in VEXAS syndrome: a case report

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, Eva Morava-Kozicz, Matthew J. Koster, Christopher T. Schmitz, Shannon Kaye Foster, Mrinal Patnaik, Kenneth J. Warrington, Eric W. Klee, Filippo Pinto e Vairo   +8 more
doaj   +1 more source

RETRACTED ARTICLE: GRP78 determines glioblastoma sensitivity to UBA1 inhibition-induced UPR signaling and cell death

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, Jiefeng Yu, Runqiu Wu, Lin Shi, Xu Zhang, Wanhong Zhang, Xiaomin Zhong, Yifeng Wang, Huan Li, Yang Shen, Changyong Wu, Rutong Yu, Mingshan Niu, Xuejiao Liu   +13 more
doaj   +1 more source

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy [PDF]

JCI Insight, 2016
The autosomal recessive neuromuscular disease spinal muscular atrophy (SMA) is caused by loss of survival motor neuron (SMN) protein. Molecular pathways that are disrupted downstream of SMN therefore represent potentially attractive therapeutic targets for SMA.
Powis, Rachel A., Karyka, Evangelia, Boyd, Penelope, Come, Julien, Jones, Ross A., Zheng, Yinan, Szunyogova, Eva, Groen, Ewout J. N., Hunter, Gillian, Thomson, Derek, Wishart, Thomas M., Becker, Catherina G., Parson, Simon H., Martinat, Cecile, Azzouz, Mimoun, Gillingwater, Thomas H.   +15 more
openaire   +4 more sources

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

Journal of Allergy and Clinical Immunology, 2022
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, dysplastic bone marrow, vacuoles in myeloid and erythroid progenitor cells, cutaneous and pulmonary ...
Caspar I. van der Made, Judith Potjewijd, Annemiek Hoogstins, Huub P.J. Willems, Arjan J. Kwakernaak, Ruud G.L. de Sevaux, Paul L.A. van Daele, Annet Simons, Marloes Heijstek, David B. Beck, Mihai G. Netea, Pieter van Paassen, A. Elizabeth Hak, Lars T. van der Veken, Marielle E. van Gijn, Alexander Hoischen, Frank L. van de Veerdonk, Helen L. Leavis, Abraham Rutgers   +18 more
openaire   +7 more sources