PXD048558

PXD048558 is an original dataset announced via ProteomeXchange.

Title	Impact of de novo variants in the PSMC5 coding the AAA-ATPase proteasome subunit PSMC5/Rpt6 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 mutations in the AAA-ATPase proteasome subunit PSMC5/Rpt6, we performed a mass spectrometry-based comparative analysis of the T-cell proteome of subjects with PSMC5 mutations to that of their wild-type counterparts.
HostingRepository	PRIDE
AnnounceDate	2025-08-07
AnnouncementXML	Submission_2025-08-07_04:22:38.752.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	2024-01-15 05:01:47	ID requested
⏵ 1	2025-08-07 04:22:39	announced

10.1101/2024.01.13.24301174;

K, ü, ry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, M, ö, ller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedl, á, č, ek Z, Han, č, á, rov, á M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Genevi, è, ve D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-Gonz, á, lez AM, Tizzano EF, G, ó, mez-Andr, é, s D, Codina-Sol, à M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Jamra RA, Kamphausen SB, Bothe V, Busch LM, V, ö, lker U, Hammer E, Wende K, Cogn, é B, Isidor B, Meiler J, Bosc-Rosati A, Marcoux J, Bousquet MP, Poschmann J, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Droit A, Elgersma Y, Grabrucker AM, Bolduc FV, B, é, zieau S, Ebstein F, Kr, ü, ger E, in neurodevelopmental proteasomopathies. medRxiv, ():(2024) [pubmed]

submitter keyword: protein homeostasis,PSMC5 variants, proteasome, primary T-cells

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/2025/08/PXD048558

PRIDE project URI

• PRIDE
  1. PXD048558
     1. Label: PRIDE project
     2. Name: Impact of de novo variants in the PSMC5 coding the AAA-ATPase proteasome subunit PSMC5/Rpt6 on the protein pattern of patient-derived primary T-cells in comparison to their wild-type counterparts.