PXD041849

PXD041849 is an original dataset announced via ProteomeXchange.

Title	Mice retina proteomic in the study of gaptch11 in Leber Congenial Amaurosis
Description	Leber 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.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:59:54.328.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Chiara guerrera
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	timsTOF

Revision	Datetime	Status	ChangeLog Entry
0	2023-04-27 07:28:21	ID requested
1	2024-09-27 07:59:41	announced
⏵ 2	2024-10-22 06:59:54	announced	2024-10-22: Updated project metadata.

Dataset with its publication pending

submitter keyword: Leber Congenial Amaurosis, LCA,gpatch11, retina

Chiara Guerrera
contact affiliation	Proteomic Plateform Necker - SFR Necker - US24
contact email	chiara.guerrera@inserm.fr
lab head
Chiara guerrera
contact affiliation	Necker proteomics, INSERM
contact email	chiara.guerrera@inserm.fr
dataset submitter

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/2024/09/PXD041849

PRIDE project URI

• PRIDE
  1. PXD041849
     1. Label: PRIDE project
     2. Name: Mice retina proteomic in the study of gaptch11 in Leber Congenial Amaurosis