Results 61 to 70 of about 4,126 (198)

ABS0859 AZACITIDINE REDUCES SYMPTOMS AND UBA1 MUTATION VARIANT ALLELE FREQUENCY IN PATIENTS WITH VEXAS SYNDROME: A RETROSPECTIVE COHORT STUDY

Annals of the Rheumatic Diseases
Sanne Wijnberger, Myrthe Natzijl, Jan R.T. van Weering, Jasmijn Meerlo, Jonas B. Salzbrunn, Arend Mulder, Stefan Klein, Abraham Rutgers   +7 more
openalex   +2 more sources

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

, 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   +1 more source

From Covalent Traps to Fluorescent Beacons: The Expanding Arsenal of Chemical Probes for Studying Ubiquitin and Ubiquitin‐Like Proteins

Angewandte Chemie, Volume 138, Issue 13, 23 March 2026.
A large variety of chemistry‐based ubiquitin probes have been developed. ABSTRACT Ubiquitin (Ub) and ubiquitin‐like proteins (Ubls) orchestrate diverse cellular processes through reversible post‐translational modification of target proteins. Their conjugation is governed by a cascade of E1 activating, E2 conjugating, and E3 ligating enzymes, while ...
Saibal Chanda, Wenshe Ray Liu
wiley   +2 more sources

Response letter to “Latent class analysis of 216 patients with adult-onset Still’s disease” by Sugiyama et al.

Arthritis Research & Therapy, 2022
Sugiyama et al. recently described in “Latent class analysis of 216 patients with adult-onset Still’s disease,” baseline characteristics, laboratory tests, treatment, relapse, and death of adult-onset Still’s disease (AOSD) patients from a Japanese ...
Marion Delplanque, Arsène Mekinian, Sophie Georgin-Lavialle   +2 more
doaj   +1 more source

Structural analysis of MDM2 RING separates degradation from regulation of p53 transcription activity [PDF]

, 2017
MDM2–MDMX complexes bind the p53 tumor-suppressor protein, inhibiting p53's transcriptional activity and targeting p53 for proteasomal degradation. Inhibitors that disrupt binding between p53 and MDM2 efficiently activate a p53 response, but their use in
A Plechanovová, A Plechanovová, Andreas K Hock, CS Chen, D Migliorini, D Shi, Danny T Huang, DC Scott, DE Christensen, Dominika Kowalczyk, E Branigan, E Meulmeester, Gary J Sibbet, H Dou, H Dou, H Kawai, H Kawai, I Ray-Coquard, J Momand, J Parant, JC Badciong, JD Oliner, JG Sanchez, JN Pruneda, K Itahana, K Linke, Karen H Vousden, KH Khoo, Koji Nomura, L Buetow, L Buetow, L Huang, LA Tollini, LC Storoni, LK Linares, LT Vassilev, M Andreeff, M Argentini, M Bista, M Kostic, Marta Klejnot, MG Koliopoulos, MHG Kubbutat, ML Choong, MS Dai, MS Dai, MV Poyurovsky, MW Jackson, N Minsky, N Zheng, P Dolezelova, P Emsley, P Roxburgh, PD Adams, PS Brzovic, Q Cheng, Q Cheng, Q Ding, R Honda, R Montes de Oca Luna, R Stad, R Stad, RA Finch, RK Geyer, S Iyappan, S Shangary, S Uldrijan, SN Jones, UM Moll, V Pant, W Kabsch, Y Pan   +71 more
core   +1 more source

VEXAS Syndrome: A Novelty in MDS Landscape

Diagnostics, 2022
Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1 ...
Marie Templé, Olivier Kosmider
doaj   +1 more source

Specific lid-base contacts in the 26s proteasome control the conformational switching required for substrate degradation. [PDF]

, 2019
The 26S proteasome is essential for proteostasis and the regulation of vital processes through ATP-dependent degradation of ubiquitinated substrates. To accomplish the multi-step degradation process, the proteasomes regulatory particle, consisting of lid
Aufderheide, Bard, Bard, Bard, Bashore, Beckwith, Dambacher, de la Peña, Ding, Dong, Eisele, Elsasser, Finley, Glickman, Glickman, Goldstein, Groll, Hershko, Kachroo, Lander, Lasker, Longtine, Matyskiela, Myers, Nemec, Peth, Prakash, Rubin, Smith, Sone, Tomko, Unverdorben, Verma, VerPlank, VerPlank, Wehmer, Wendler, Wenzel, Worden, Worden, Yao, Zhu, Śledź   +42 more
core   +1 more source

Recurrent superior orbital fissure syndrome associated with VEXAS syndrome

Journal of Ophthalmic Inflammation and Infection, 2023
Purpose To describe a case of recurrent orbital inflammation and superior orbital fissure syndrome associated with VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome. Case presentation VEXAS syndrome is a recently identified multi-
Katie Myint, Namritha Patrao, Oana Vonica, Kaveh Vahdani   +3 more
doaj   +1 more source

Comparative Efficacy and Safety of Anakinra and Canakinumab in Patients With VEXAS Syndrome: An International Multicenter Study. [PDF]

Arthritis Rheumatol
Objective The aim of this study was to compare differences in clinical response, drug survival, and adverse event rates between anakinra and canakinumab in VEXAS (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) syndrome. Methods This multicenter international study includes patients with VEXAS from France, Israel, and Italy treated with ...
Eviatar T, Capelusnik D, Campochiaro C, Lacombe V, Jachiet V, Zisapel M, Sagy I, Tayer-Shifman OE, Ozeri D, Kivity S, Tomelleri A, Terrier B, Peleg H, Comont T, Sacre K, Woaye-Hune P, Arnaud L, Lazaro E, Grobost V, Lifermann F, Samson M, Ardois S, Garnier A, Maria A, Cantagrel A, Meyer A, Bouaziz JD, Heiblig M, Dagna L, Diral E, Kosmider O, Elkayam O, Hadjadj J, Georgin-Lavialle S, Fain O, Mekinian A.   +35 more
europepmc   +2 more sources

Molecular and clinical presentation of UBA1-mutated myelodysplastic syndromes

Blood
Abstract Mutations in UBA1, which are disease-defining for VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome, have been reported in patients diagnosed with myelodysplastic syndromes (MDS). Here, we define the prevalence and clinical associations of UBA1 mutations in a representative cohort of
Maria Sirenko, Elsa Bernard, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango Ossa, Olivier Kosmider, Robert Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Carmelo Gurnari, Matilde Yung Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Birgitta Sander, Elisa Orna, Katharina Zoldan, Lea Naomi Eder, Wolfgang R. Sperr, Renate Thalhammer, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Belickova, Michael R. Savona, Virginia M. Klimek, Fabio P. S. Santos, Jacqueline Boultwood, Ioannis Kotsianidis, Valeria Santini, Francesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee-Yung Shih, Seishi Ogawa, Michaela Fontenay, Joop H. Jansen, Jose Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, David B. Beck, Eva Hellström-Lindberg, Elli Papaemmanuil   +59 more
openaire   +8 more sources