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PXD050694

PXD050694 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleProteomic characterization of the molecular signature of congenital myopathies
DescriptionCongenital myopathies (CMs) are progressive diseases that constitute a diverse group of hereditary neuromuscular disorders that have been studied due to their diagnostic and therapeutic complexity. Due to the great clinical and molecular heterogeneity of CMs, this set of diseases constantly challenges healthcare teams and researchers pushing the multidisciplinary teams to better characterize biomarkers for more efficient diagnostic, enrichment of clinical trials design and therapeutic strategies. In this work we propose to characterize the molecular signature of nemaline, central core, multiminicore and fiber type disproportion myopathies as well as Duchenne and Becker dystrophy using a label free Mass Spectrometry NANOLC-MS/MS proteomic approach.
HostingRepositoryPRIDE
AnnounceDate2025-05-06
AnnouncementXMLSubmission_2025-05-06_13:31:56.210.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterProteomics Unit
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListacetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
InstrumentQ Exactive Plus
Dataset History
RevisionDatetimeStatusChangeLog Entry
02024-03-17 12:47:35ID requested
12025-05-06 13:31:57announced
Publication List
da Silva JCT, Nogueira MRA, da Silva YM, Nogueira FCS, Canedo NHS, Carneiro K, de Abreu Pereira D, Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins. Sci Rep, 15(1):3293(2025) [pubmed]
10.1038/s41598-025-87995-5;
Keyword List
submitter keyword: proteomics, Becker muscular dystrophy, Duchenne muscular dystrophy,mass spectrometry, biomarkers
Contact List
Fábio César Sousa Nogueira
contact affiliationUnidade Proteômica, Departamento de Bioquímica, Instituto de Química, Universidade Federal do Rio de Janeiro; Laboratório de Proteômica (LabProt), LADETEC, Instituto de Química, Universidade Federal do Rio de Janeiro; Centro de Pesquisa em Medicina de Precisão, Instituto de Biofísica Carlos Chagas Filho, Universidade Federal do Rio de Janeiro
contact emailfabiocsn@gmail.com
lab head
Proteomics Unit
contact affiliationUFRJ
contact emailunidadeproteomica@gmail.com
dataset submitter
Full Dataset Link List
Dataset FTP location
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PRIDE project URI
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