Objective
Mutations in the Crumbs homologue 1 or CRB1 gene lead to photoreceptor degeneration resulting in retentions pimentos type 12 (RP12), Leer congenital anacrusis (LCA) or classical autonomic recessive RP. The fruitfully Crib protein is essential for the polarisation of ectoderm ally-derived epithelial cells. CRB1 is expressed only in photoreceptors and brain and is expected to play a determining role in cell polarisation. Using fruitfully, human and mouse genetics we shall analyse the biochemical, cellular and physiological functions of CRB1, its family members and CRB1-interacting-proteins (Caps). We shall analyse the retinal degeneration in mouse models for RP12 and LCA. We will generate gene expression profiles using oligonucleotide microarray analysis to determine the cellular and molecular changes during the onset of the neurosensory disease. We expect to deliver lent viral gene therapy vectors to prevent the onset of RP12 and LCA.
Fields of science (EuroSciVoc)
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
CORDIS classifies projects with EuroSciVoc, a multilingual taxonomy of fields of science, through a semi-automatic process based on NLP techniques.
- medical and health sciencesmedical biotechnologygenetic engineeringgene therapy
- natural sciencesbiological sciencesbiochemistrybiomoleculesproteins
- natural sciencesbiological sciencescell biologycell polarity
- natural sciencesbiological sciencesgeneticsmutation
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Topic(s)
Call for proposal
Data not availableFunding Scheme
CSC - Cost-sharing contractsCoordinator
1105 BA AMSTERDAM
Netherlands