Results 11 to 20 of about 3,775 (171)

UBA1 inhibition sensitizes cancer cells to PARP inhibitors

Cell Reports Medicine
Summary: Therapeutic strategies targeting the DNA damage response, such as poly (ADP-ribose) polymerase (PARP) inhibitors (PARPi), have revolutionized cancer treatment in tumors deficient in homologous recombination (HR).
Sharad Awasthi, Lacey E. Dobrolecki, Christina Sallas, Xudong Zhang, Yang Li, Sima Khazaei, Sumanta Ghosh, Collene R. Jeter, Jinsong Liu, Gordon B. Mills, Shannon N. Westin, Michael T. Lewis, Weiyi Peng, Anil K. Sood, Timothy A. Yap, S. Stephen Yi, Daniel J. McGrail, Nidhi Sahni   +17 more
doaj   +4 more sources

Rapid clinical deployment of UBA1 testing in patients with VEXAS syndrome [PDF]

American Journal of Clinical Pathology
Abstract Objective VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described autoinflammatory syndrome caused by pathogenic variants in UBA1. However, there is a dearth of widely available UBA1 testing aside from large, expensive sequencing studies.
Simon Chen, Peter C Grayson, Marcela A Ferrada   +2 more
exaly   +5 more sources

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

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   +3 more sources

A novel UBA1 gene mutation in a patient with infantile respiratory distress syndrome

Human Genome Variation
UBA1 is an E1 ubiquitin-activating enzyme that initiates the ubiquitylation of target proteins and is thus a key component of the ubiquitin signaling pathway.
Masafumi Miyata, Arisa Kojima, Yuri Kawai, Hidetoshi Uchida, Hiroko Boda, Naoko Ishihara, Hidehito Inagaki, Tetsushi Yoshikawa, Hiroki Kurahashi   +8 more
doaj   +3 more sources

Dynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis

Orphanet Journal of Rare Diseases
Background Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations.
Suying Duan, Haiyang Luo, Yunchao Wang, Dongbin Jiang, Jiajia Liu, Jiaqi Li, Honglin Zheng, Taiqi Zhao, Chenyang Liu, Hang Zhang, Chengyuan Mao, Lei Zhang, Yuming Xu   +12 more
doaj   +3 more sources

S161: UBA1 NON-M41 VARIANTS ARE MORE AGGRESSIVE THAN UBA1 M41 VARIANTS IN THEIR HEMATOLOGICAL MANIFESTATIONS.

HemaSphere, 2023
Maki Sakuma, Constance Baer, Manja Meggendorfer, Claudia Haferlach, Wolfgang Kern, Torsten Haferlach, Wencke Walter   +6 more
doaj   +2 more sources

Somatic Mutation in UBA1 and ANCA-associated Vasculitis [PDF]

The Journal of Rheumatology, 2021
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was recently discovered in 25 men with late-onset severe and refractory inflammatory syndromes and associated hematologic abnormalities. Various diseases have been described, such as relapsing polychondritis, myelodysplastic syndrome, polyarteritis nodosa, and giant cell ...
Carolyn Ross, Hannah Laure Elfassy, Jean-Paul Makhzoum   +2 more
openaire   +2 more sources

Prognostic Impact of UBA1 Expression in Breast Cancer. [PDF]

J Cancer
Koch J, Vatter L, Heyer J, Klar M, Juhasz-Böss I, Werner M, Kurowski K, Bronsert P.   +7 more
europepmc   +2 more sources

Novel somatic mutations in UBA1 as a cause of VEXAS syndrome [PDF]

Blood, 2021
Poulter and colleagues describe a series from the United Kingdom of 10 male patients with VEXAS syndrome, including 2 with novel genetic changes affecting methionine 41 of E1.
James A. Poulter, Jason C. Collins, Catherine Cargo, Ruth M. De Tute, Paul Evans, Daniela Ospina Cardona, David T. Bowen, Joanna R. Cunnington, Elaine Baguley, Mark Quinn, Michael Green, Dennis McGonagle, David B. Beck, Achim Werner, Sinisa Savic   +14 more
openaire   +3 more sources

UBA1 Non-M41 Variants Are More Aggressive than UBA1 M41 Variants in Their Haematological Manifestations

EMJ Hematology, 2023
BACKGROUND AND AIMS In 2020, three somatic mutations in the X-linked gene UBA1, coding for an essential ubiquitin activating enzyme, were reported to cause VEXAS syndrome, a novel haemato-inflammatory disease that manifests with both cytopenias and autoinflammation.1 The mutations alter the start codon (M41) of the cytoplasmic isoform of UBA1 ...
Sakuma, Maki, Baer, Constance, Meggendorfer, Manja, Haferlach, Claudia, Kern, Wolfgang, Haferlach, Torsten, Walter, Wencke   +6 more
openaire   +1 more source