Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathi...
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment
About this item
Full title
Author / Creator
Tanaka, Naoto , Dutrow, Emily V. , Miyadera, Keiko , Delemotte, Lucie , MacDermaid, Christopher M. , Reinstein, Shelby L. , Crumley, William R. , Dixon, Christopher J. , Casal, Margret L. , Klein, Michael L. , Aguirre, Gustavo D. , Tanaka, Jacqueline C. , Guziewicz, Karina E. and Oak Ridge National Laboratory (ORNL), Oak Ridge, TN (United States). Oak Ridge Leadership Computing Facility (OLCF)
Publisher
United States: Public Library of Science
Journal title
Language
English
Formats
Publication information
Publisher
United States: Public Library of Science
Subjects
More information
Scope and Contents
Contents
Cyclic nucleotide-gated (CNG) ion channels are key mediators underlying signal transduction in retinal and olfactory receptors. Genetic defects in CNGA3 and CNGB3, encoding two structurally related subunits of cone CNG channels, lead to achromatopsia (ACHM). ACHM is a congenital, autosomal recessive retinal disorder that manifests by cone photorece...
Alternative Titles
Full title
Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment
Authors, Artists and Contributors
Author / Creator
Dutrow, Emily V.
Miyadera, Keiko
Delemotte, Lucie
MacDermaid, Christopher M.
Reinstein, Shelby L.
Crumley, William R.
Dixon, Christopher J.
Casal, Margret L.
Klein, Michael L.
Aguirre, Gustavo D.
Tanaka, Jacqueline C.
Guziewicz, Karina E.
Oak Ridge National Laboratory (ORNL), Oak Ridge, TN (United States). Oak Ridge Leadership Computing Facility (OLCF)
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_plos_journals_1719319540
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1719319540
Other Identifiers
ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0138943
