⮝ Full datasets listing

PXD035200

PXD035200 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleQuantitative proteome analysis of LAP1-deficient human fibroblasts reveals key signaling pathways deregulated in LAP1-associated diseases
DescriptionLamina-associated polypeptide 1 (LAP1), a ubiquitously expressed nuclear envelope protein, seems to be essential for the maintenance of cell homeostasis. Although rare, mutations in the human LAP1-encoding TOR1AIP1 gene have been associated to the development of many severe pathologies (e.g. dystonia, myasthenic syndrome, muscular dystrophy, cardiomyopathy and multisystemic syndrome), which can culminate in the premature death of affected individuals. Despite recent evidence of the pathogenicity of TOR1AIP1 genetic alterations, a knowledge gap still exists regarding the physiological roles of LAP1 and, therefore, additional investigation is required to fully understand its biological relevance. To this end, a quantitative proteome analysis of patient-derived skin fibroblasts carrying a pathological TOR1AIP1 mutation (LAP1 E482A), which had been linked to strongly reduced LAP1 protein levels, was carried out. Using the liquid chromatography with tandem mass spectrometry (LC–MS/MS) technology, 386 differentially expressed proteins were found in LAP1 E482A fibroblasts relative to control fibroblasts. A bioinformatic analysis of the LC–MS/MS-identified differentially expressed proteins revealed several biological processes misregulated as a result of human LAP1 deficiency, such as DNA repair, messenger RNA degradation, proteostasis, glutathione metabolism/response to oxidative stress, neuronal development and muscle contraction, among others. Besides shedding light on potential new LAP1’s functions, this work also provides valuable clues about key signaling pathways that may be targeted in disease-modifying therapies for LAP1-associated disorders.
HostingRepositoryPRIDE
AnnounceDate2024-06-27
AnnouncementXMLSubmission_2024-06-27_07:53:28.640.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterguadalupe espadas
SpeciesList scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationListacetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
InstrumentOrbitrap Fusion Lumos
Dataset History
RevisionDatetimeStatusChangeLog Entry
02022-07-09 09:05:44ID requested
12024-06-27 07:53:29announced
Publication List
10.1016/J.BBREP.2024.101757;
Keyword List
submitter keyword: mRNA decay, muscle contraction, oxidative stress,DNA repair, proteostasis, neuronal development
Contact List
Eduard Sabidó
contact affiliationCentre for Genomic Regulation (CRG)
contact emaileduard.sabido@crg.eu
lab head
guadalupe espadas
contact affiliationcrg
contact emailguadalupe.espadas@crg.eu
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/2024/06/PXD035200
PRIDE project URI
Repository Record List
[ + ]