Unique retinal signaling defect in GNB5-related disease
Author:
Funder
Foundation Fighting Blindness
Publisher
Springer Science and Business Media LLC
Subject
Physiology (medical),Sensory Systems,Ophthalmology
Link
http://link.springer.com/content/pdf/10.1007/s10633-019-09735-1.pdf
Reference10 articles.
1. Lodder EM et al (2016) GNB5 mutations cause an autosomal-recessive multisystem syndrome with sinus bradycardia and cognitive disability. Am J Hum Genet 99(3):704–710
2. McCulloch DL et al (2015) ISCEV standard for full-field clinical electroretinography (2015 update). Doc Ophthalmol 130(1):1–12
3. Krispel CM et al (2003) Prolonged photoresponses and defective adaptation in rods of Gbeta5−/− mice. J Neurosci 23(18):6965–6971
4. Rao A et al (2007) Gbeta5 is required for normal light responses and morphology of retinal ON-bipolar cells. J Neurosci 27(51):14199–14204
5. Nishiguchi KM et al (2004) Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 427(6969):75–78
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