Results 11 to 20 of about 3,812 (167)

Auranofin targets UBA1 and enhances UBA1 activity by facilitating ubiquitin trans-thioesterification to E2 ubiquitin-conjugating enzymes

Nature Communications, 2023
UBA1 is the primary E1 ubiquitin-activating enzyme responsible for generation of activated ubiquitin required for ubiquitination, a process that regulates stability and function of numerous proteins.
Wenjing Yan, Yongwang Zhong, Xin Hu, Tuan Xu, Yinghua Zhang, Stephen Kales, Yanyan Qu, Daniel C. Talley, Bolormaa Baljinnyam, Christopher A. LeClair, Anton Simeonov, Brian M. Polster, Ruili Huang, Yihong Ye, Ganesha Rai, Mark J. Henderson, Dingyin Tao, Shengyun Fang   +17 more
doaj   +3 more sources

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.
CARLOS J Suarez, Paul A Wadsworth, David Beck   +2 more
exaly   +5 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

A fatal case of VEXAS syndrome with a brief review [PDF]

Journal of Vascular Surgery Cases and Innovative Techniques
VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described adult-onset autoinflammatory condition characterized by somatic mutations in the X-linked UBA1 gene.
Grant Stoltman, BA, Rashid Skeik, BS, Jesse Manunga, MD, Nedaa Skeik, MD   +3 more
doaj   +2 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

UBA1: At the Crossroads of Ubiquitin Homeostasis and Neurodegeneration [PDF]

Trends in Molecular Medicine, 2015
Neurodegenerative diseases are a leading cause of disability and early death. A common feature of these conditions is disruption of protein homeostasis. Ubiquitin-like modifier activating enzyme 1 (UBA1), the E1 ubiquitin-activating enzyme, sits at the apex of the ubiquitin cascade and represents an important regulator of cellular protein homeostasis ...
Groen, Ewout J.N., Gillingwater, Thomas H.   +1 more
openaire   +3 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

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

Translation of cytoplasmic UBA1 contributes to VEXAS syndrome pathogenesis [PDF]

Blood, 2022
AbstractSomatic mutations in UBA1 cause vacuoles, E1 ubiquitin-activating enzyme, X-linked, autoinflammatory somatic (VEXAS) syndrome, an adult-onset inflammatory disease with an overlap of hematologic manifestations. VEXAS syndrome is characterized by a high mortality rate and significant clinical heterogeneity.
Marcela A. Ferrada, Sinisa Savic, Daniela Ospina Cardona, Jason C. Collins, Hugh Alessi, Fernanda Gutierrez-Rodrigues, Dinesh Babu Uthaya Kumar, Lorena Wilson, Wendy Goodspeed, James S. Topilow, Julie J. Paik, James A. Poulter, Tanaz A. Kermani, Matthew J. Koster, Kenneth J. Warrington, Catherine Cargo, Rachel S. Tattersall, Christopher J. A. Duncan, Anna Cantor, Patrycja Hoffmann, Elspeth M. Payne, Hanna Bonnekoh, Karoline Krause, Edward W. Cowen, Katherine R. Calvo, Bhavisha A. Patel, Amanda K. Ombrello, Daniel L. Kastner, Neal S. Young, Achim Werner, Peter C. Grayson, David B. Beck   +31 more
openaire   +5 more sources