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PXD041849

PXD041849 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleMice retina proteomic in the study of gaptch11 in Leber Congenial Amaurosis
DescriptionLeber Congenial Amaurosis (LCA) is the most severe early-onset type of blindness that affects children. Several genes have been discovered to be involved in the disease, Gpatch11 being one of them, which needs to be studied deeply. We identified an homozygous variant in the splicing site of exon4 responsible for the deletion in frame of this exon which encoded a part of the gpatch domain. The aim of the project is the understanding of GPATCH11 protein role and more precisely the role of the gpatch domain in the retina. We are interested in dissecting the interaction between wildtype/mutant protein encoded by the gene in respect of an unknown protein (some publication rapported possible interaction with Helicases). This aim could be achieved thanks to the immunoprecipitation of the protein extracted from patients and control fibroblasts and the consequent analysis through mass spectrometry.
HostingRepositoryPRIDE
AnnounceDate2024-10-22
AnnouncementXMLSubmission_2024-10-22_06:59:54.328.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterChiara guerrera
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationListacetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
InstrumenttimsTOF
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-04-27 07:28:21ID requested
12024-09-27 07:59:41announced
22024-10-22 06:59:54announced2024-10-22: Updated project metadata.
Publication List
Dataset with its publication pending
Keyword List
submitter keyword: Leber Congenial Amaurosis, LCA,gpatch11, retina
Contact List
Chiara Guerrera
contact affiliationProteomic Plateform Necker - SFR Necker - US24
contact emailchiara.guerrera@inserm.fr
lab head
Chiara guerrera
contact affiliationNecker proteomics, INSERM
contact emailchiara.guerrera@inserm.fr
dataset submitter
Full Dataset Link List
Dataset FTP location
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PRIDE project URI
Repository Record List
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