Literature DB >> 12778053

Opsin activation as a cause of congenital night blindness.

Shengnan Jin1, M Carter Cornwall, Daniel D Oprian.   

Abstract

Three different mutations of rhodopsin are known to cause autosomal dominant congenital night blindness in humans. Although the mutations have been studied for 10 years, the molecular mechanism of the disease is still a subject of controversy. We show here, using a transgenic Xenopus laevis model, that the photoreceptor cell desensitization that is a hallmark of the disease results from persistent signaling by constitutively active mutant opsins.

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Year:  2003        PMID: 12778053     DOI: 10.1038/nn1070

Source DB:  PubMed          Journal:  Nat Neurosci        ISSN: 1097-6256            Impact factor:   24.884


  38 in total

1.  Molecular basis for ultraviolet vision in invertebrates.

Authors:  Ernesto Salcedo; Lijun Zheng; Meridee Phistry; Eve E Bagg; Steven G Britt
Journal:  J Neurosci       Date:  2003-11-26       Impact factor: 6.167

2.  Structural origins of constitutive activation in rhodopsin: Role of the K296/E113 salt bridge.

Authors:  Jong-Myoung Kim; Christian Altenbach; Masahiro Kono; Daniel D Oprian; Wayne L Hubbell; H Gobind Khorana
Journal:  Proc Natl Acad Sci U S A       Date:  2004-08-11       Impact factor: 11.205

Review 3.  Rod and cone visual pigments and phototransduction through pharmacological, genetic, and physiological approaches.

Authors:  Vladimir J Kefalov
Journal:  J Biol Chem       Date:  2011-11-10       Impact factor: 5.157

4.  Structural, energetic, and mechanical perturbations in rhodopsin mutant that causes congenital stationary night blindness.

Authors:  Shiho Kawamura; Alejandro T Colozo; Lin Ge; Daniel J Müller; Paul S-H Park
Journal:  J Biol Chem       Date:  2012-05-01       Impact factor: 5.157

5.  Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin.

Authors:  Darwin Toledo; Eva Ramon; Mònica Aguilà; Arnau Cordomí; Juan J Pérez; Hugo F Mendes; Michael E Cheetham; Pere Garriga
Journal:  J Biol Chem       Date:  2011-09-22       Impact factor: 5.157

Review 6.  G protein-coupled receptor rhodopsin.

Authors:  Krzysztof Palczewski
Journal:  Annu Rev Biochem       Date:  2006       Impact factor: 23.643

Review 7.  Light and inherited retinal degeneration.

Authors:  D M Paskowitz; M M LaVail; J L Duncan
Journal:  Br J Ophthalmol       Date:  2006-05-17       Impact factor: 4.638

8.  Regulatory dissociation of Tctex-1 light chain from dynein complex is essential for the apical delivery of rhodopsin.

Authors:  Ting-Yu Yeh; Diego Peretti; Jen-Zen Chuang; Enrique Rodriguez-Boulan; Ching-Hwa Sung
Journal:  Traffic       Date:  2006-09-01       Impact factor: 6.215

9.  11-cis- and all-trans-retinols can activate rod opsin: rational design of the visual cycle.

Authors:  Masahiro Kono; Patrice W Goletz; Rosalie K Crouch
Journal:  Biochemistry       Date:  2008-06-19       Impact factor: 3.162

Review 10.  Constitutively active rhodopsin and retinal disease.

Authors:  Paul Shin-Hyun Park
Journal:  Adv Pharmacol       Date:  2014
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