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PXD035276-1

PXD035276 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleProteomics investigation of alterations driven by 7q11.23 CNVs in neurons
DescriptionCopy 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).
HostingRepositoryPRIDE
AnnounceDate2024-10-17
AnnouncementXMLSubmission_2024-10-17_02:54:43.616.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterRoberta Noberini
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListNo PTMs are included in the dataset
InstrumentQ Exactive HF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02022-07-12 02:26:23ID requested
12024-10-17 02:54:44announced
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 affiliationEuropean Institute of Oncology
contact emailtiziana.bonaldi@ieo.it
lab head
Roberta Noberini
contact affiliationIstituto Europeo di Oncologia
contact emailroberta.noberini@ieo.it
dataset submitter
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Dataset FTP location
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