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Results: 1 to 20 of 102

1.

CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions.

Dai G, Varnum MD.

Am J Physiol Cell Physiol. 2013 Jul 15;305(2):C147-59. doi: 10.1152/ajpcell.00037.2013. Epub 2013 Apr 3.

PMID:
23552282
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Feedback regulation of cone cyclic nucleotide channels by phosphoinositides. Focus on "CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions".

Cioffi DL, Rich TC.

Am J Physiol Cell Physiol. 2013 Jul 15;305(2):C131-2. doi: 10.1152/ajpcell.00136.2013. Epub 2013 May 15. No abstract available.

PMID:
23677796
[PubMed - indexed for MEDLINE]
Free PMC Article
3.
4.

Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides.

Dai G, Sherpa T, Varnum MD.

J Biol Chem. 2014 May 9;289(19):13680-90. doi: 10.1074/jbc.M114.562272. Epub 2014 Mar 27.

PMID:
24675082
[PubMed - indexed for MEDLINE]
5.

Two structural components in CNGA3 support regulation of cone CNG channels by phosphoinositides.

Dai G, Peng C, Liu C, Varnum MD.

J Gen Physiol. 2013 Apr;141(4):413-30. doi: 10.1085/jgp.201210944.

PMID:
23530136
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.

Liu C, Sherpa T, Varnum MD.

Mol Vis. 2013 Jun 11;19:1268-81. Print 2013.

PMID:
23805033
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels.

Bright SR, Brown TE, Varnum MD.

Mol Vis. 2005 Dec 19;11:1141-50.

PMID:
16379026
[PubMed - indexed for MEDLINE]
Free Article
8.

Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit.

Ding XQ, Fitzgerald JB, Quiambao AB, Harry CS, Malykhina AP.

Adv Exp Med Biol. 2010;664:245-53. doi: 10.1007/978-1-4419-1399-9_28.

PMID:
20238023
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel.

Patel KA, Bartoli KM, Fandino RA, Ngatchou AN, Woch G, Carey J, Tanaka JC.

Invest Ophthalmol Vis Sci. 2005 Jul;46(7):2282-90.

PMID:
15980212
[PubMed - indexed for MEDLINE]
Free Article
10.

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.

Matveev AV, Quiambao AB, Browning Fitzgerald J, Ding XQ.

J Neurochem. 2008 Sep;106(5):2042-55. doi: 10.1111/j.1471-4159.2008.05548.x. Epub 2008 Jul 4.

PMID:
18665891
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit.

Liu C, Varnum MD.

Am J Physiol Cell Physiol. 2005 Jul;289(1):C187-98. Epub 2005 Mar 2.

PMID:
15743887
[PubMed - indexed for MEDLINE]
Free Article
12.

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia.

Reuter P, Koeppen K, Ladewig T, Kohl S, Baumann B, Wissinger B; Achromatopsia Clinical Study Group.

Hum Mutat. 2008 Oct;29(10):1228-36. doi: 10.1002/humu.20790.

PMID:
18521937
[PubMed - indexed for MEDLINE]
13.

Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit.

Peng C, Rich ED, Thor CA, Varnum MD.

J Biol Chem. 2003 Jul 4;278(27):24617-23. Epub 2003 May 1.

PMID:
12730238
[PubMed - indexed for MEDLINE]
Free Article
14.

Matrix metalloproteinase-9 and -2 enhance the ligand sensitivity of photoreceptor cyclic nucleotide-gated channels.

Meighan PC, Meighan SE, Rich ED, Brown RL, Varnum MD.

Channels (Austin). 2012 May-Jun;6(3):181-96. doi: 10.4161/chan.20904. Epub 2012 May 1.

PMID:
22699690
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia.

Goto-Omoto S, Hayashi T, Gekka T, Kubo A, Takeuchi T, Kitahara K.

Vis Neurosci. 2006 May-Aug;23(3-4):395-402.

PMID:
16961972
[PubMed - indexed for MEDLINE]
16.

Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP.

Hum Mutat. 2005 Mar;25(3):248-58.

PMID:
15712225
[PubMed - indexed for MEDLINE]
17.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Koeppen K, Reuter P, Ladewig T, Kohl S, Baumann B, Jacobson SG, Plomp AS, Hamel CP, Janecke AR, Wissinger B.

Hum Mutat. 2010 Jul;31(7):830-9. doi: 10.1002/humu.21283.

PMID:
20506298
[PubMed - indexed for MEDLINE]
18.

Loss of cone cyclic nucleotide-gated channel leads to alterations in light response modulating system and cellular stress response pathways: a gene expression profiling study.

Ma H, Thapa A, Morris LM, Michalakis S, Biel M, Frank MB, Bebak M, Ding XQ.

Hum Mol Genet. 2013 Oct 1;22(19):3906-19. doi: 10.1093/hmg/ddt245. Epub 2013 Jun 4.

PMID:
23740940
[PubMed - indexed for MEDLINE]
19.

Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate.

Bright SR, Rich ED, Varnum MD.

Mol Pharmacol. 2007 Jan;71(1):176-83. Epub 2006 Oct 3.

PMID:
17018579
[PubMed - indexed for MEDLINE]
Free Article
20.

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.

Matveev AV, Fitzgerald JB, Xu J, Malykhina AP, Rodgers KK, Ding XQ.

Biochemistry. 2010 Mar 2;49(8):1628-39. doi: 10.1021/bi901960u.

PMID:
20088482
[PubMed - indexed for MEDLINE]
Free PMC Article

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