Results 51 to 60 of about 3,419 (164)

An update on VEXAS syndrome [PDF]

, 2022
Introduction VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently described, late-onset, acquired autoinflammatory disorder caused by mutations in the UBA1 gene.
Savic, S, Sinisa Savic, Adam Al-Hakim, Al-Hakim, A   +3 more
core   +1 more source

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, EarlyView.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome

Nature Communications
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is caused by inactivating somatic mutations in the UBA1 gene. Here, we characterize the immunological landscape of VEXAS syndrome by performing multi-omics single-cell RNA analysis,
Hiroki Mizumaki, Shouguo Gao, Zhijie Wu, Fernanda Gutierrez-Rodrigues, Massimiliano Bissa, Xingmin Feng, Emma M. Groarke, Haoran Li, Lemlem Alemu, Diego Quinones Raffo, Ivana Darden, Sachiko Kajigaya, Peter C. Grayson, Genoveffa Franchini, Neal S. Young, Bhavisha A. Patel   +15 more
doaj   +1 more source

Australian clinical practice guideline: diagnosis and treatment of idiopathic multicentric Castleman disease

Internal Medicine Journal, EarlyView.
Abstract Idiopathic multicentric Castleman disease (iMCD) is a rare condition. The pathogenesis is incompletely understood; however, interleukin‐6 (IL‐6) is a major mediator. The clinical presentation is heterogeneous, from mild constitutional symptoms to severe multi‐organ failure.
Dipti Talaulikar, Jun Yen Ng, Adam Bryant, Annmarie Bosco, Hugh C. Caterson, Pratyush Giri, Pravin Hissaria, Simon J. Harrison, Stephen Lade, Connull Leslie, Jacinta Perram, H. Miles Prince, Dejan Radeski, Maureen Rischmueller, Craig Wallington‐Gates, Nicholas Weber, Alberta Hoi   +16 more
wiley   +1 more source

Neutrophil Secretory Proteins Inhibit Calcium Oxalate Crystallisation and Crystal Growth, but Promote Crystal Aggregation

Immunology, EarlyView.
Calcium oxalate monohydrate (COM) crystals cause changes in the secretion of 29 proteins from neutrophil‐like cells, including those involved in neutrophil immune activation and intracellular metabolic adaptation. The neutrophil secreted proteins (secretome) also inhibit calcium oxalate crystallisation and crystal growth, but promote crystal ...
Chanettee Lertprapai, Paleerath Peerapen, Visith Thongboonkerd   +2 more
wiley   +1 more source

Sequences around the Uba1 mutation in tsTM3 cells.

, 2014
(A) Sequencing traces obtained with Uba1 DNA (prepared by reverse transcription of pools of mRNA or from genomic DNA) from wild-type CHO-K1 and mutant tsTM3 cells.
Kimihiko Sugaya (560676), Sonoe Inoue (560678), Yoshie Ishihara (560677), Hideo Tsuji (24799)   +3 more
core   +1 more source

Post‐Translational Control of TaFT1 by WAPO1 Ubiquitination Shapes Spike Architecture and Yield in Wheat

Plant Biotechnology Journal, EarlyView.
ABSTRACT The florigen protein TaFT1 coordinately regulates heading time and spikelet number per spike (SNS), serving as a key yield determinant in wheat. However, how its stability is post‐translationally controlled in the shoot apical meristem remains unclear.
Yujie Jiang, Xiongtao Li, Yiqing Wang, Haoran Wang, Zhaoyan Chen, Chaoqun Dong, Xiangqing Liu, Xincheng Wang, Sufang Li, Weilong Guo, Yingyin Yao, Mingming Xin, Xingguo Ye, Zhongfu Ni, Qixin Sun, Jie Liu   +15 more
wiley   +1 more source

VEXAS syndrome in a female with constitutional monosomy X

EULAR Rheumatology Open
: The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 gene in haematopoietic progenitor cells and predominantly affects elderly males. However,
Nikolas Ruffer, Simon Melderis, Olaf Determann, Lana Harder, Isabell Haase, Ina Kötter, Anja Lüdemann, Martin Krusche   +7 more
doaj   +1 more source

From the Proteome to Therapeutics: A Multi‐Database Approach to Drug Discovery in Periodontitis—An Exploratory Pilot Study

Journal of Clinical Periodontology, Volume 53, Issue 7, Page 990-1004, July 2026.
ABSTRACT Introduction This explanatory pilot study presents a workflow to identify approved drugs, which could be repurposed for periodontitis therapy using salivary proteomics combined with drug‐target database screening. Methods Proteomic analyses of saliva using LC–MS/MS were conducted in two independent settings: a cohort (sub‐study I, N = 187) and
Taisir Bozo, Annette Murr, Birte Holtfreter, Sebastian‐Edgar Baumeister, Peter Meisel, Uwe Völker, Werner Weitschies, Henry Völzke, Philipp Kanzow, Elke Hammer, Manuela Gesell Salazar, Thomas Kocher   +11 more
wiley   +1 more source

Alzheimer's disease biological domain sub‐stratification enhances the precision of functional analyses

Alzheimer's &Dementia, Volume 22, Issue 6, June 2026.
Abstract INTRODUCTION The Target Enablement to Accelerate Therapy Development for AD (TREAT‐AD) bioinformatics pipeline employs a rank‐and‐organize strategy. Disease‐associated genes drive enrichment of large AD‐linked endophenotypes. However, these biological areas were too large to promote hypothesis development or target identification.
Gregory A. Cary, Sai Sruthi Amirtha Ganesh, Laura Heath, Karina Leal, Martin Kampmann, Frank M. Longo, Robert R. Butler III, Allan L. Levey, Gregory W. Carter, Jesse Wiley   +9 more
wiley   +1 more source