⮝ Full datasets listing

PXD049207

PXD049207 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleFiber type-specific proteomic alterations in R349P desminopathy mice
DescriptionDesminopathies refer to a group of rare human myopathies and cardiomyopathies, caused by mutations in the desmin gene. So far, there is no causative treatment and little is known about early pathological effects, since alterations in muscle biopsies usually reflect late stages of the disease. Thus, effort has been made to create animal models closely mirroring the human disease pathology. In the present work, we studied the effects of wild type desmin, as well as one of the most common mutations causing desminpathy in humans either heterozygously or homozygously expressed in a mouse model system. With our innovative approach coupling laser microdissection and mass spectrometry, we were able to define disease-associated alterations on the level of muscle fiber types. This allowed us to determine fiber-type specific changes in response to the desmin mutation, revealing profound differences in the proteomic profile of type I and type IIa fibers of homozygous mice. Desmin levels were severly decreased, leading to alterations in the expression of extracellular matrix and myofibrillary proteins. Further a clear mitochondrial pathology could be verified, whereby lower levels of mitochondrial complexes I and V could be observed, as well as a decreased expression of essential mitochondrial transporters, adding to the complexity of molecular symptoms caused by the mutation in the desmin gene.
HostingRepositoryPRIDE
AnnounceDate2025-05-26
AnnouncementXMLSubmission_2025-05-25_16:24:52.452.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterBritta Eggers
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationListmonohydroxylated residue; deamidated residue; iodoacetamide derivatized residue
InstrumentQ Exactive HF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02024-02-06 06:46:53ID requested
12025-05-25 16:24:53announced
Publication List
10.1002/mus.28379;
Eggers B, Schork K, Turewicz M, Barkovits K, Eisenacher M, Schr, รถ, der R, Clemen CS, Marcus K, Fiber Type-Specific Proteomic Alterations in R349P Desminopathy Mice. Muscle Nerve, 71(6):1113-1121(2025) [pubmed]
Keyword List
submitter keyword: myofibrillar myopathy, desmin, proteomics,Fiber types
Contact List
Katrin Marcus
contact affiliationMedizinisches Proteom-Center, Medical Faculty, Ruhr-University Bochum, 44801 Bochum, Germany
contact emailkatrin.marcus@rub.de
lab head
Britta Eggers
contact affiliationRuhr University Bochum
contact emailbritta.eggers@rub.de
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/2025/05/PXD049207
PRIDE project URI
Repository Record List
[ + ]