Results 11 to 20 of about 6,714 (194)

Uba1 functions in Atg7- and Atg3-independent autophagy [PDF]

Nature Cell Biology, 2013
Autophagy is a conserved process that delivers components of the cytoplasm to lysosomes for degradation. The E1 and E2 enzymes encoded by Atg7 and Atg3 are thought to be essential for autophagy involving the ubiquitin-like protein Atg8. Here, we describe
Baehrecke, Eric H., Chang, Tsun-Kai, Harper, J. Wade, Hayes, Sebastian D., Powers, Christine M., Shravage, Bhupendra V., Simin, Rachel T.   +6 more
core   +6 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

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

UBA1 inhibition contributes radiosensitization of glioblastoma cells via blocking DNA damage repair

Frontiers in Pharmacology, 2023
Glioblastoma multiforme (GBM) is a brain tumor with high mortality and recurrence rate. Radiotherapy and chemotherapy after surgery are the main treatment options available for GBM. However, patients with glioblastoma have a grave prognosis.
Changyong Wu, Changyong Wu, Yang Shen, Yang Shen, Lin Shi, Lin Shi, Lin Shi, Junhao Zhang, Tongxuan Guo, Lingni Zhou, Wanzhou Wang, Xu Zhang, Xu Zhang, Rutong Yu, Rutong Yu, Xuejiao Liu, Xuejiao Liu   +16 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

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review. [PDF]

Br J Haematol
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Hoff FW, Trikha R, Groarke EM, Patel BA.
europepmc   +2 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

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

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