Article
Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.
Human molecular genetics - 1 Jan 2013
Alves Celso Henrique, Sanz Alicia Sanz, Park Bokyung, Pellissier Lucie P, Tanimoto Naoyuki, Beck Susanne C, Huber Gesine, Murtaza Mariyam, Richard Fabrice, Sridevi Gurubaran Iswariyaraja, Garcia Garrido Marina, Levelt Christiaan N, Rashbass Penny, Le Bivic André, Seeliger Mathias W, Wijnholds Jan
Abstract excerpt
In humans, the Crumbs homolog-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. However, there is no clear genotype-phenotype correlation for CRB1 mutations, which suggests that other components of the CRB complex may influence the severity of retinal disease. Therefore, to understand the physiological role of the Crumbs complex proteins, we...
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