Results 31 to 40 of about 3,775 (171)

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 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

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

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

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

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

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]

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, Ilona Juan, Hao Le, Xiaodong Cai, Lisa Baumbach, Christine Beattie, Gennaro D'Urso   +6 more
doaj   +1 more source

Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome

Frontiers in Immunology, 2022
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS).
Haruki Matsumoto, Yuya Fujita, Masahiko Fukatsu, Takayuki Ikezoe, Kohei Yokose, Tomoyuki Asano, Naomi Tsuchida, Naomi Tsuchida, Naomi Tsuchida, Ayaka Maeda, Shuhei Yoshida, Honami Hashimoto, Jumpei Temmoku, Naoki Matsuoka, Makiko Yashiro-Furuya, Shuzo Sato, Mai Murakami, Hidenori Sato, Chiharu Sakuma, Kazumasa Kawashima, Norshalena Shakespear, Yuri Uchiyama, Yuri Uchiyama, Hiroshi Watanabe, Yohei Kirino, Naomichi Matsumoto, Kiyoshi Migita   +26 more
doaj   +1 more source

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

UBA1 dysfunction in VEXAS and cancer

Oncotarget
UBA1, an X-linked gene, encodes one of the only two ubiquitin E1 enzymes, playing a pivotal role in initiating one of the most essential post-translational modifications. In late 2020, partial loss-of-function mutations in UBA1 within hematopoietic stem and progenitor cells were found to be responsible for VEXAS Syndrome, a previously unidentified ...
Sakuma, Maki, Haferlach, Torsten, Walter, Wencke   +2 more
openaire   +2 more sources