Achromatopsia-associated Mutation in the Human Cone Photoreceptor Cyclic Nucleotide-gated Channel CNGB3 Subunit Alters the Ligand Sensitivity and Pore Properties of Heteromeric Channels
Open Access
- 1 September 2003
- journal article
- Published by Elsevier
- Vol. 278 (36) , 34533-34540
- https://doi.org/10.1074/jbc.m305102200
Abstract
No abstract availableKeywords
This publication has 56 references indexed in Scilit:
- Functionally Important Calmodulin-binding Sites in Both NH2- and COOH-terminal Regions of the Cone Photoreceptor Cyclic Nucleotide-gated Channel CNGB3 SubunitJournal of Biological Chemistry, 2003
- Cyclic Nucleotide-Gated Ion ChannelsPhysiological Reviews, 2002
- Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21Human Molecular Genetics, 2000
- Genetic basis of total colourblindness among the Pingelapese islandersNature Genetics, 2000
- Molecular Cloning and Functional Characterization of a New Modulatory Cyclic Nucleotide-Gated Channel Subunit from Mouse RetinaJournal of Neuroscience, 2000
- Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channelNature Genetics, 1998
- Cloning, chromosomal localization and functional expression of the gene encoding the α-subunit of the cGMP-gated channel in human cone photoreceptorsEuropean Journal of Neuroscience, 1997
- Molecular cloning, functional expression and chromosomal localization of a human homolog of the cyclic nucleotide‐gated ion channel of retinal cone photoreceptorsFEBS Letters, 1996
- Structure and Function of Cyclic Nucleotide-Gated ChannelsAnnual Review of Neuroscience, 1996
- Rod and cone photoreceptor cells express distinct genes for cGMP-gated channelsNeuron, 1993