Crumbs homologue 1 in polarity and blindness-Reference-Cited by-同舟云学术

Crumbs homologue 1 in polarity and blindness

Published:2004-10-26 Issue:5 Volume:32 Page:828-830
ISSN:0300-5127
Container-title:Biochemical Society Transactions
language:en
Short-container-title:

Author:

Meuleman J.¹,van de Pavert S.A.¹,Wijnholds J.¹

Affiliation:

1. The Netherlands Ophthalmic Research Institute, Royal Netherlands Academy of Arts and Sciences, Meibergdreef 47, 1105 BA Amsterdam, The Netherlands

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.

Publisher

Portland Press Ltd.

Subject

Biochemistry

Link

https://portlandpress.com/biochemsoctrans/article-pdf/32/5/828/537490/bst0320828.pdf

Reference15 articles.

1. Assignment of a Gene for Autosomal Recessive Retinitis Pigmentosa (RP12) to Chromosome 1q31-q32.1 in an Inbred and Genetically Heterogeneous Disease Population

2. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)

3. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

4. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis

5. Composition and Formation of Intercellular Junctions in Epithelial Cells

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