Dataset Information

Analysis of the altered t-cell proteome in proteasome impaired patients

ABSTRACT: Proteome analysis of samples derived from patients with impaired protasome functionality.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Primary Cell, T Cell

DISEASE(S): Proteasome-associated Autoinflammatory Syndrome 3,Proteasome-associated Autoinflammatory Syndrome 1

SUBMITTER: Leif Steil

LAB HEAD: Uwe Völker

PROVIDER: PXD062316 | Pride | 2025-12-15

REPOSITORIES: Pride

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	20230919_Exp_LS_BCH_074_1.raw	Raw
	20230919_Exp_LS_BCH_098_1.raw	Raw
	20230919_Exp_LS_BCH_141_1.raw	Raw
	20230919_Exp_LS_BCH_215_1.raw	Raw
	20230919_Exp_LS_BCH_216_1.raw	Raw

Items per page:

1 - 5 of 11

Publications

A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.

Wolfgramm Sophie S Alehashemi Sara S Wendlandt Martin M Thiel Franziska G FG de Jesus Adriana A AA Papendorf Jonas J JJ Wolfgramm Hannes H Alvarez Flavia Llorente FL Borngräber Emely E Uss Kat K Bhuyan Farzana F Metpally Anvitha A Steil Leif L Hentschker Christian C Venz Simone S Abdulla Ruba Al RA Poirier Léa L Friend Christopher C Casta Fabiola Castello FC Horkayne-Szakaly Iren I Akoghlanian Shoghik S Mustillo Peter J PJ Abraham Roshini S RS Bastard Paul P Moura Thais C L TCL Dorna Mayra B MB Kozu Katia T KT Kers Jesper J Teng Y K Onno YKO Bredius Robbert G M RGM Palmblad Karin K Horne AnnaCarin A Brodin Petter P Blanco-Lobo Pilar P Bernabeu-Wittel José J Fernandez-Silveira Laura L Neth Olaf O Pagnier Anne A Boursier Guilaine G Tusseau Maud M Huizinga Thomas W J TWJ Fournier Benjamin B Neven Bénédicte B Völker Uwe U Santen Gijs W E GWE Brenchley Jason M JM Calvo Katherine R KR Kleiner David D Ebstein Frédéric F Krüger Elke E Goldbach-Mansky Raphaela R

Annals of the rheumatic diseases 20251117

<h4>Objectives</h4>Proteasome-associated autoinflammatory syndromes (PRAAS) include a group of autoinflammatory interferonopathies caused by 20S proteasome dysfunction. We characterised pathomechanisms and treatment responses of patients with a de novo, dominant-negative (DN)-proteasome subunit beta type-8 (PSMB8) variant.<h4>Methods</h4>Patients with the DN-PSMB8 p.G209R variant encoding a mutant β5i subunit of the 20S immunoproteasome were evaluated. Interferon biomarkers, proteasome activity, ...[more]

PMID: 41253591

Similar Datasets

Project description:The absence of DNA, their abundance, and ease of acquisition make erythrocytes an excellent source for EV production. Accordingly, red blood cell-derived extracellular particles (RBCEPs) possess many benefits in healthcare applications representing a simple and powerful platform for drug delivery. Nowadays, how the different methods proposed to produce them could influence their properties remains poorly investigated. We compared three main types of RBCEPs: (i) those naturally released during the blood bag storage (EryErythrosomes, EryEs, E), (ii) those produced artificially through RBC sonication (NanoErythrosomes, NanoEs, N), and (iii) those released after RBC chemical stimulation, in this case with calcium ionophore (Vesiculation induced-EryEs, VI-EryEs, R). We evaluated the characteristics of the different subtypes and the efficiency of membrane functionalization by copper-free click chemistry. Concentration and protein amount were analyzed by NTA and BCA, respectively, while transmission electron microscopy (TEM) was employed to evaluate size distribution and morphology. The expression of both EV- and erythrocyte-associated markers was evaluated by flow cytometry and western blot while proteomic analyses estimated the differences in total protein content. As expected, all three subpopulations were able to be produced on a large scale, with NanoEs being the ones with the highest concentration, polydispersity, and largest dimension. TEM analysis revealed not only the traditional EV-associated rounded shape but also the presence of a tubular shape. Tetraspanins were universally absent while all three subpopulations expressed Alix, Flotillin-1, and Tsg101. On the other hand, Glycophorin A was expressed ubiquitously while BAND 3 was uniquely found in NanoEs and EryEs. In addition, the analyzed subpopulations showed three distinct proteomic signatures and a significant amount of differentially expressed proteins that indicated distinct enrichment profiles of molecular functions. In vitro experiments on both a human fibroblast cell line and THP-1 macrophages revealed that the different subpopulations did not significantly influence internalization efficiency. Finally, NanoEs turned out to be the most efficient in surface functionalization with almost 90% of Click-EPs. This work provides a pioneering contribution to the study and application of RBCEPs, indicating that the isolation method can significantly impact both the qualitative and quantitative properties of these natural nanoparticles. Among the three subpopulations examined, NanoEs turned out to be the one suiting better the role of targeted drug delivery vehicles.