PXD041182
PXD041182 is an original dataset announced via ProteomeXchange.
Dataset Summary
Title | 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. |
Description | 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. |
HostingRepository | PRIDE |
AnnounceDate | 2024-01-26 |
AnnouncementXML | Submission_2024-01-26_07:49:01.978.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Elke Hammer |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | monohydroxylated residue; iodoacetamide derivatized residue |
Instrument | Q Exactive HF |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
---|---|---|---|
0 | 2023-03-29 03:46:30 | ID requested | |
⏵ 1 | 2024-01-26 07:49:02 | announced |
Publication List
10.1126/scitranslmed.abo3189; |
Ebstein F, K, ü, ry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogn, é B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, G, é, lineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, V, ö, lker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Kr, ü, ger E, B, é, zieau S, PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Sci Transl Med, 15(698):eabo3189(2023) [pubmed] |
Keyword List
submitter keyword: protein homeostasis, proteasome, primary T-cells,PSMC3 variants |
Contact List
Elke Hammer | |
---|---|
contact affiliation | Universitätsmedizin Greifswald Interfakultäres Institut für Genetik und Funktionelle Genomforschung Abteilung für Funktionelle Genomforschung Felix-Hausdorff-Straße 8 17487 Greifswald |
contact email | hammer@uni-greifswald.de |
lab head | |
Elke Hammer | |
contact affiliation | Dept. of Functional Genomics |
contact email | hammer@uni-greifswald.de |
dataset submitter |
Full Dataset Link List
Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2024/01/PXD041182 |
PRIDE project URI |
Repository Record List
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