title: Crumbs homologue 1 in polarity and blindness.
abstract: Several retinal dystrophies, including retinitis pigmentosa type 12 and Leber congenital amaurosis, are caused by a large variety of mutations in the CRB1 (Crumbs homologue 1) gene. This discovery led to an increased focus on the function of CRB1 and the Drosophila homologue Crumbs. In the present study, we review the current knowledge on Crumbs and its vertebrate homologues, their function in cell polarity and their pathogenicity in retinal degeneration.
authors.affiliation: The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands.
authors.forename: J
authors.initials: J
authors.lastname: Meuleman
authors.forename: S A
authors.initials: SA
authors.lastname: van de Pavert
authors.forename: J
authors.initials: J
authors.lastname: Wijnholds
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D004330:Drosophila; D029721:Drosophila Proteins / Q000378:metabolism / Q000502:physiology*; D005136:Eye Proteins / Q000378:metabolism / Q000502:physiology*; D006801:Humans; D008565:Membrane Proteins / Q000378:metabolism / Q000502:physiology*; D008954:Models, Biological; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000378:metabolism / Q000502:physiology*; D017434:Protein Structure, Tertiary; D012162:Retinal Degeneration / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
chemical_list: C448939:CRB1 protein, human; D029721:Drosophila Proteins; D005136:Eye Proteins; D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C064360:crb protein, Drosophila