Dataset Information

Impact of de novo variants in the PSMC3 proteasome AAA-ATPase subunit gene on the protein pattern of patient-derived primary T-cells in comparison to their wild-type counterparts.

ABSTRACT: To better understand the cellular consequences of loss-of-function mutations in the proteasome AAA-ATPase PSMC3, we performed a mass spectrometry-based comparative analysis of the T-cell proteome of subjects with PSMC3 mutations (p.Arg304Trp and p.Glu305Asp) to that of their wild-type counterparts.

INSTRUMENT(S):

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): T Cell

SUBMITTER: Elke Hammer

LAB HEAD: Elke Hammer

PROVIDER: PXD041182 | Pride | 2024-01-26

REPOSITORIES: Pride

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	20191209_HF_EH_BCH_16_PSMC3_mo_Co_VAU.raw	Raw
	20191209_HF_EH_BCH_1_PSMC3_Co_EG.raw	Raw
	20191209_HF_EH_BCH_3_PSMC3_Mut_EG.raw	Raw
	20191209_HF_EH_BCH_4_PSMC3_fa_Co_VAU.raw	Raw
	20191209_HF_EH_BCH_8_PSMC3_CI_Mut_VAU.raw	Raw

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1 - 5 of 9

Publications

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

Ebstein Frédéric F Küry Sébastien S Most Victoria V Rosenfelt Cory C Scott-Boyer Marie-Pier MP van Woerden Geeske M GM Besnard Thomas T Papendorf Jonas Johannes JJ Studencka-Turski Maja M Wang Tianyun T Hsieh Tzung-Chien TC Golnik Richard R Baldridge Dustin D Forster Cara C de Konink Charlotte C Teurlings Selina M W SMW Vignard Virginie V van Jaarsveld Richard H RH Ades Lesley L Cogné Benjamin B Mignot Cyril C Deb Wallid W Jongmans Marjolijn C J MCJ Cole F Sessions FS van den Boogaard Marie-José H MH Wambach Jennifer A JA Wegner Daniel J DJ Yang Sandra S Hannig Vickie V Brault Jennifer Ann JA Zadeh Neda N Bennetts Bruce B Keren Boris B Gélineau Anne-Claire AC Powis Zöe Z Towne Meghan M Bachman Kristine K Seeley Andrea A Beck Anita E AE Morrison Jennifer J Westman Rachel R Averill Kelly K Brunet Theresa T Haasters Judith J Carter Melissa T MT Osmond Matthew M Wheeler Patricia G PG Forzano Francesca F Mohammed Shehla S Trakadis Yannis Y Accogli Andrea A Harrison Rachel R Guo Yiran Y Hakonarson Hakon H Rondeau Sophie S Baujat Geneviève G Barcia Giulia G Feichtinger René Günther RG Mayr Johannes Adalbert JA Preisel Martin M Laumonnier Frédéric F Kallinich Tilmann T Knaus Alexej A Isidor Bertrand B Krawitz Peter P Völker Uwe U Hammer Elke E Droit Arnaud A Eichler Evan E EE Elgersma Ype Y Hildebrand Peter W PW Bolduc François F Krüger Elke E Bézieau Stéphane S

Science translational medicine 20230531 698

A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are required for degradation of proteins by 26<i>S</i> proteasomes. Here, we identified 15 de novo missense variants in the <i>PSMC3</i> gene encoding the AAA-ATPase proteasome subunit PSMC3/Rpt5 in 23 unrelated heterozygous patients with an autosomal domin ...[more]

PMID: 37256937

Dataset Information

Impact of de novo variants in the PSMC3 proteasome AAA-ATPase subunit gene on the protein pattern of patient-derived primary T-cells in comparison to their wild-type counterparts.

Dataset's files

Publications

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.

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