PXD041182-1

PXD041182 is an original dataset announced via ProteomeXchange.

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

Revision	Datetime	Status	ChangeLog Entry
0	2023-03-29 03:46:30	ID requested
⏵ 1	2024-01-26 07:49:02	announced

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]

submitter keyword: protein homeostasis, proteasome, primary T-cells,PSMC3 variants

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

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

• PRIDE
  1. PXD041182
     1. Label: PRIDE project
     2. Name: 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.