Results 41 to 50 of about 3,419 (164)

Nuclear localization of ubiquitin-activating enzyme Uba1 is characterized in its mammalian temperature-sensitive mutant

, 2015
In our previous study, a point mutation in Uba1, the gene encoding ubiquitin-activating enzyme, was identified in temperature-sensitive (ts) CHO-K1 mutant tsTM3 cells, which led to a Met-to-Ile substitution at amino acid 256 in Uba1 protein ...
473789, 473791, 473790, Sugaya, Kimihiko, 石原 よし江, 井上 園江, 473793, 473792, 473788, Ishihara, Yoshie, 菅谷 公彦, Inoue, Sonoe   +11 more
core   +1 more source

VEXAS syndrome: a diagnostic puzzle

RMD Open, 2023
The VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is an adult-onset systemic autoinflammatory condition that is caused by an acquired deficiency of the UBA1 gene in hematopoietic progenitor cells.
Martin Krusche, Nikolas Ruffer
doaj   +1 more source

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

American Journal of Clinical Pathology
Simon Chen, Peter C Grayson, Marcela A Ferrada   +2 more
exaly   +2 more sources

Therapeutic Outcomes in VEXAS Syndrome: A Multicenter Comparative Cohort of Allogeneic Hematopoietic Stem Cell Transplantation and Hypomethylating Agents

American Journal of Hematology, EarlyView.
ABSTRACT Hypomethylating agents (HMA) and allogeneic hematopoietic stem cell transplantation (alloHSCT) have both demonstrated remissions in VEXAS; however, comparative data is lacking. We conducted a multicenter, retrospective analysis of 66 patients diagnosed with VEXAS syndrome treated with HMA (n = 35) or alloHSCT (n = 31). Baseline characteristics
Saubia Fathima, Margaret Mei‐Kay Wong, Jesus Gonzalez‐Lugo, Susan M. Geyer, Ali Alsugair, Maria Sirenko, Kimberly J. Langer, Terra L. Lasho, Christy Finke, Jun Choi, Maher Abdul‐Hay, Gary Ho, Mark R. Litzow, Aasiya Matin, Urshila Durani, Mehrdad Hefazi, William J. Hogan, Mithun V. Shah, Aref Al‐Kali, Kebede H. Begna, Naseema Gangat, Antoine N. Saliba, Ronald S. Go, Tariq Kewan, Gabriel Bartoo, Jade Kutzke, Kristen McCullough, Kenneth J. Warrington, Megan Sullivan, Kaaren K. Reichard, Horatiu Olteanu, Hemant Murthy, Talha Badar, Yael Kusne, Jeanne Palmer, Saurabh Chhabra, Nathan Punwani, Mary Riwes, Joseph P. McGuirk, Elizabeth F. Krakow, Amelia Langston, Taxiarchis Kourelis, David Dingli, James Foran, Matthew J. Koster, Mrinal M. Patnaik, David B. Beck, Hassan B. Alkhateeb, Abhishek A. Mangaonkar   +48 more
wiley   +1 more source

Synthetic Strategies for Activity‐Based Probes to Decode Ubiquitin‐Like Modifiers

Chemistry – A European Journal, EarlyView.
ABSTRACT Ubiquitin‐like proteins (Ubls) such as SUMO, NEDD8, ISG15, URM1, UFM1, FAT10, ATG8/ATG12, and FUBI are essential regulators of cellular homeostasis, controlling processes from protein stability and trafficking to immune signaling and autophagy.
Saibal Chanda, Alan Pham, SreeNidhi Karnati, Natalia Soto Rodriguez, Alyssa Toner, Wenshe Ray Liu   +5 more
wiley   +1 more source

Spinal muscular atrophy patient iPSC-derived motor neurons have reduced expression of proteins important in neuronal development [PDF]

, 2016
This work was supported by The RJAH Institute of Orthopaedics, UK (H.F.), The SMA Trust, UK (H.F.), Cedars-Sinai Institutional startup funds (D.S), California Institute for Regenerative Medicine Grant RT-02040 (D.S.), National Center for Advancing ...
Heidi R. Fuller, Andrew R. Gross, Kaus, Anjoscha, Morris, Glen, Sareen, Dhruv, Glenn E. Morris, Fuller, H, Shirran, Sally Lorna, Catherine H. Botting, Shirran, SL, Botting, Catherine Helen, Dhruv Sareen, Mandefro, Berhan, Botting, CH, Gross, AR, Berhan Mandefro, Fuller, Heidi, Sally L. Shirran, Sareen, S, Morris, GE, Anjoscha S. Kaus, Gross, Andrew, Mandefro, B, Kaus, AS   +23 more
core   +1 more source

Patients with VEXAS diagnosed in a Danish tertiary rheumatology setting have highly elevated inflammatory markers, macrocytic anaemia and negative autoimmune biomarkers

RMD Open, 2022
Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is an autoinflammatory condition with overlapping features of rheumatology and haematology caused by somatic mutations in the UBA1 gene.
Ellen-Margrethe Hauge, Anne Troldborg, Fruzsina Szabados, Mads Nyhuus Bendix Rasch, Jens Magnus Bernth Jensen, Kirstine Overgaard Nielsen   +5 more
doaj   +1 more source

SPROUTS_DB: An Implemented Database of Contaminants for Extracellular Vesicle Proteomics Studies

PROTEOMICS, EarlyView.
ABSTRACT Current proteomics techniques allow rapid identification and quantification of proteins within any given biological source. However, LC–MS/MS proteomics is vulnerable to laboratory and sample‐associated contaminants. Therefore, accurate identification and annotation of such contaminants is crucial for development of reliable databases ...
Maria Gaetana Giovanna Pittalà, Loredana Leggio, Greta Paternò, Elena Giusto, Laura Civiero, Vincenzo Cunsolo, Silvia Vivarelli, Antonella Di Francesco, Emanuele Alpi, Nunzio Iraci, Rosaria Saletti   +10 more
wiley   +1 more source

VEXAS without vacuoles: Linking genotype to phenotype

eJHaem
Introduction VEXAS syndrome is a rare condition characterized by somatic mutations in the ubiquitin‐like modifier activating enzyme 1 (UBA1) gene and a constellation of clinical/morphologic findings, including the presence of cytoplasmic vacuoles within ...
Sara Zhukovsky, Anton Rets, Tawnie Braaten, Ami B. Patel   +3 more
doaj   +1 more source

Testicular SIRT1 Loss Reveals an Aging‐Like Proteomic Landscape and Precipitates Reproductive Deterioration

Andrology, EarlyView.
ABSTRACT Background Advanced paternal age is associated with reduced male fertility and testicular dysfunction. Among the molecular regulators involved in aging, SIRT1, a NAD+‐dependent deacetylase, plays a pivotal role in maintaining oxidative balance and cellular homeostasis.
María Iniesta‐Cuerda, Jiřina Havránková, Hedvika Řimnáčová, Jiří Moravec, František Liška, Martin Knytl, Milena Králíčková, Jan Nevoral   +7 more
wiley   +1 more source