Mice retina proteomic in the study of gaptch11 in Leber Congenial Amaurosis
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ABSTRACT: 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.
INSTRUMENT(S): timsTOF Pro
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Epithelial Cell, Retina
DISEASE(S): Leber Congenital Amaurosis
SUBMITTER: Chiara guerrera
LAB HEAD: Chiara Guerrera
PROVIDER: PXD051363 | Pride | 2024-09-27
REPOSITORIES: Pride
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