Molecular Defects of the Cone CNG Channel Mutations
Matveev AV, Quiambao AB, Browning Fitzgerald J, Ding XQ. Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice. J Neurochem. 2008 Sep;106(5):2042-55. Epub 2008 Jul 4.
Ding XQ, Fitzgerald JB, Matveev AV, McClellan ME, Elliott MH. Functional activity of photoreceptor cyclic nucleotide-gated channels is dependent on the integrity of cholesterol- and sphingolipid-enriched membrane domains. Biochemistry. 2008 Mar 25;47(12):3677-87. Epub 2008 Feb 28.
Ding XQ, Fitzgerald JB, Quiambao AB, Harry CS, Malykhina AP. Molecular Pathogenesis of Achromatopsia Associated with Mutations in the Cone Cyclic Nucleotide-Gated Channel CNGA3 Subunit. Adv Exp Med Biol. 2010;664:245-53.
Ding XQ, Harry CS, Umino Y, Matveev AV, Fliesler SJ, Barlow RB. Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. Hum Mol Genet. 2009 Dec 15;18(24):4770-80. Epub 2009 Sep 17.
Matveev AV, Fitzgerald JB, Xu J, Malykhina AP, Rodgers KK, Ding XQ. The disease-causing mutations in the carboxyl terminus of the cone cyclic nucleotide-gated channel CNGA3 subunit alter the local secondary structure and interfere with the channel active conformational change. Biochemistry. 2010 Mar 2;49(8):1628-39.
First published on: June 10, 2008
Last modified on: August 30, 2011