Impaired photoreceptor protein transport and synaptic transmission in a mouse model of Bardet–Biedl syndrome

Author:

Abd-El-Barr Muhammad M.,Sykoudis Kristen,Andrabi Sara,Eichers Erica R.,Pennesi Mark E.,Tan Perciliz L.,Wilson John H.,Katsanis Nicholas,Lupski James R.,Wu Samuel M.

Publisher

Elsevier BV

Subject

Sensory Systems,Ophthalmology

Reference51 articles.

1. Activation of mislocalized opsin kills rod cells: A novel mechanism for rod cell death in retinal disease;Alfinito;Proceedings of the National Academy of Sciences of the United States of America,2002

2. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome;Ansley;Nature,2003

3. The function of guanylate cyclase 1 (GC1) and guanylate cyclase 2 (GC2) in rod and cone photoreceptors;Baehr;Journal of Biological Chemistry,2007

4. Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies;Bascom;Neuron,1992

5. New criteria for improved diagnosis of Bardet–Biedl syndrome: Results of a population survey;Beales;Journal of Medical Genetics,1999

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