Proteomics

Dataset Information

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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

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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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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]

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