PXD035276
PXD035276 is an original dataset announced via ProteomeXchange.
Dataset Summary
Title | Proteomics investigation of alterations driven by 7q11.23 CNVs in neurons |
Description | Copy number variations (CNVs) at 7q11.23 cause Williams-Beuren (WBS) and 7q microduplication syndromes (7Dup), two neurodevelopmental disorders with both shared and symmetrically opposite cognitive-behavioral phenotypes. Here, we profiled the proteomes of isogenic Ngn2-driven neurons that recapitulate the three dosages of 7q11.23 (hemiduplicated, control and hemideleted). |
HostingRepository | PRIDE |
AnnounceDate | 2024-10-17 |
AnnouncementXML | Submission_2024-10-17_02:54:43.616.xml |
DigitalObjectIdentifier | |
ReviewLevel | Peer-reviewed dataset |
DatasetOrigin | Original dataset |
RepositorySupport | Unsupported dataset by repository |
PrimarySubmitter | Roberta Noberini |
SpeciesList | scientific name: Homo sapiens (Human); NCBI TaxID: 9606; |
ModificationList | No PTMs are included in the dataset |
Instrument | Q Exactive HF |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
---|---|---|---|
0 | 2022-07-12 02:26:23 | ID requested | |
⏵ 1 | 2024-10-17 02:54:44 | announced |
Publication List
Mihailovich M, Germain PL, Shyti R, Pozzi D, Noberini R, Liu Y, Aprile D, Tenderini E, Troglio F, Trattaro S, Fabris S, Ciptasari U, Rigoli MT, Caporale N, D'Agostino G, Mirabella F, Vitriolo A, Capocefalo D, Skaros A, Franchini AV, Ricciardi S, Biunno I, Neri A, Nadif Kasri N, Bonaldi T, Aebersold R, Matteoli M, Testa G, Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability. J Clin Invest, 134(14):(2024) [pubmed] |
10.1172/jci168982; |
Keyword List
submitter keyword: proteomics,neuron |
Contact List
Tiziana Bonaldi | |
---|---|
contact affiliation | European Institute of Oncology |
contact email | tiziana.bonaldi@ieo.it |
lab head | |
Roberta Noberini | |
contact affiliation | Istituto Europeo di Oncologia |
contact email | roberta.noberini@ieo.it |
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/2024/10/PXD035276 |
PRIDE project URI |
Repository Record List
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