Gene replacement therapy for retinal CNG channelopathies
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[1] S. Petersen-Jones,et al. Large Animal Model of Autosomal Recessive RP due to a CNGB1 gene mutation , 2013 .
[2] W. Hauswirth,et al. Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia. , 2013, Molecular therapy : the journal of the American Society of Gene Therapy.
[3] W. Hauswirth,et al. A comprehensive review of retinal gene therapy. , 2013, Molecular therapy : the journal of the American Society of Gene Therapy.
[4] Alexander Sumaroka,et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement , 2013, Proceedings of the National Academy of Sciences.
[5] Jianhua Xu,et al. Detection of cGMP in the degenerating retina. , 2013, Methods in molecular biology.
[6] N. Tanimoto,et al. Gene therapy restores vision and delays degeneration in the CNGB1(-/-) mouse model of retinitis pigmentosa. , 2012, Human molecular genetics.
[7] W. Hauswirth,et al. AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia , 2012, PloS one.
[8] William J Feuer,et al. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. , 2012, Archives of ophthalmology.
[9] L. Vandenberghe,et al. Novel adeno-associated viral vectors for retinal gene therapy , 2011, Gene Therapy.
[10] A. Dubra,et al. Photoreceptor structure and function in patients with congenital achromatopsia. , 2011, Investigative ophthalmology & visual science.
[11] W. N. Zagotta,et al. Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels , 2011, Nature communications.
[12] Jianhua Xu,et al. Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency. , 2011, Investigative ophthalmology & visual science.
[13] Livia S. Carvalho,et al. Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy , 2011, Human molecular genetics.
[14] N. Tanimoto,et al. Exploring Different Serotypes And Promoters In rAAV-mediated Gene Replacement Therapy Of Achromatopsia Type 2 (ACHM2) , 2011 .
[15] M. Biel,et al. The Glutamic Acid-Rich Protein Is a Gating Inhibitor of Cyclic Nucleotide-Gated Channels , 2011, The Journal of Neuroscience.
[16] C. Willoughby,et al. Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa , 2010, Journal of Medical Genetics.
[17] N. Tanimoto,et al. Restoration of cone vision in the CNGA3-/- mouse model of congenital complete lack of cone photoreceptor function. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.
[18] E. Banin,et al. A novel day blindness in sheep: epidemiological, behavioural, electrophysiological and histopathological studies. , 2010, Veterinary journal.
[19] András M Komáromy,et al. Gene therapy rescues cone function in congenital achromatopsia. , 2010, Human molecular genetics.
[20] C. Klaver,et al. Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. , 2010, Ophthalmology.
[21] E. Seroussi,et al. A mutation in gene CNGA3 is associated with day blindness in sheep. , 2010, Genomics.
[22] M. Biel,et al. The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32 , 2010, PloS one.
[23] Zhijian Wu,et al. Effect of genome size on AAV vector packaging. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.
[24] H. Nakai,et al. Characterization of genome integrity for oversized recombinant AAV vector. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.
[25] D. Duan,et al. Evidence for the Failure of Adeno-associated Virus Serotype 5 to Package a Viral Genome ≥8.2 kb. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.
[26] W. Hauswirth,et al. Achromatopsia as a potential candidate for gene therapy. , 2010, Advances in experimental medicine and biology.
[27] R. Barlow,et al. Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. , 2009, Human molecular genetics.
[28] C. Klaver,et al. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. , 2009, Ophthalmology.
[29] G. Fain,et al. Knockout of GARPs and the β-subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity , 2009, Journal of Cell Science.
[30] W. Hauswirth,et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. , 2008, Human gene therapy.
[31] Edwin M Stone,et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics , 2008, Proceedings of the National Academy of Sciences.
[32] R. Kumar‐Singh. Barriers for retinal gene therapy: Separating fact from fiction , 2008, Vision Research.
[33] Nick Tyler,et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. , 2008, The New England journal of medicine.
[34] Kathleen A. Marshall,et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. , 2008, The New England journal of medicine.
[35] E. Surace,et al. Versatility of AAV vectors for retinal gene transfer , 2008, Vision Research.
[36] M. Biel,et al. Function and Dysfunction of CNG Channels: Insights from Channelopathies and Mouse Models , 2007, Molecular Neurobiology.
[37] P. Sieving,et al. CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. , 2007, Investigative ophthalmology & visual science.
[38] Dyonne T Hartong,et al. Retinitis pigmentosa , 2009 .
[39] Martin Biel,et al. International Union of Pharmacology. LI. Nomenclature and Structure-Function Relationships of Cyclic Nucleotide-Regulated Channels , 2005, Pharmacological Reviews.
[40] S. Deeb,et al. The molecular basis of variation in human color vision , 2005, Clinical genetics.
[41] S. Haverkamp,et al. Impaired opsin targeting and cone photoreceptor migration in the retina of mice lacking the cyclic nucleotide-gated channel CNGA3. , 2005, Investigative ophthalmology & visual science.
[42] P. Sieving,et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia , 2005, European Journal of Human Genetics.
[43] A. Kennan,et al. Light in retinitis pigmentosa. , 2005, Trends in genetics : TIG.
[44] K. Yau,et al. Impaired Channel Targeting and Retinal Degeneration in Mice Lacking the Cyclic Nucleotide-Gated Channel Subunit CNGB1 , 2005, The Journal of Neuroscience.
[45] J. Pokorny,et al. Classification of complete and incomplete autosomal recessive achromatopsia , 2005, Graefe's Archive for Clinical and Experimental Ophthalmology.
[46] T. Tahira,et al. A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. , 2004, Investigative ophthalmology & visual science.
[47] W. Catterall,et al. The VGL-Chanome: A Protein Superfamily Specialized for Electrical Signaling and Ionic Homeostasis , 2004, Science's STKE.
[48] S. Haverkamp,et al. Morphological characterization of the retina of the CNGA3(-/-)Rho(-/-) mutant mouse lacking functional cones and rods. , 2004, Investigative ophthalmology & visual science.
[49] M. Varnum,et al. Subunit Configuration of Heteromeric Cone Cyclic Nucleotide-Gated Channels , 2004, Neuron.
[50] Michael Kalloniatis,et al. Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options , 2004, Clinical & experimental optometry.
[51] Darrell R. Abernethy,et al. International Union of Pharmacology: Approaches to the Nomenclature of Voltage-Gated Ion Channels , 2003, Pharmacological Reviews.
[52] Martin Biel,et al. International Union of Pharmacology. XLII. Compendium of Voltage-Gated Ion Channels: Cyclic Nucleotide-Modulated Channels , 2003, Pharmacological Reviews.
[53] M. Trudeau,et al. Rod Cyclic Nucleotide-Gated Channels Have a Stoichiometry of Three CNGA1 Subunits and One CNGB1 Subunit , 2002, Neuron.
[54] E. Kremmer,et al. Subunit Stoichiometry of the CNG Channel of Rod Photoreceptors , 2002, Neuron.
[55] K. Yau,et al. The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry , 2002, Nature.
[56] E. Ostrander,et al. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. , 2002, Human molecular genetics.
[57] N. Bennett,et al. Basis for Intracellular Retention of a Human Mutant of the Retinal Rod Channel a Subunit , 2002, The Journal of Membrane Biology.
[58] U. Kaupp,et al. Cyclic nucleotide-gated ion channels. , 2002, Physiological reviews.
[59] B. Wissinger,et al. Clinical features of achromatopsia in Swedish patients with defined genotypes , 2002, Ophthalmic genetics.
[60] Lindsay T Sharpe,et al. The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes. , 2002, Human molecular genetics.
[61] Jean Bennett,et al. Gene therapy restores vision in a canine model of childhood blindness , 2001, Nature Genetics.
[62] M. Claustres,et al. Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa , 2001, Human Genetics.
[63] Helga Kolb,et al. The mammalian photoreceptor mosaic-adaptive design , 2000, Progress in Retinal and Eye Research.
[64] P. Sieving,et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. , 2000, Human molecular genetics.
[65] D. Hunt,et al. Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy , 2000, Nature Genetics.
[66] S. Yokoyama. Molecular evolution of vertebrate visual pigments , 2000, Progress in Retinal and Eye Research.
[67] I. Maumenee,et al. Genetic basis of total colourblindness among the Pingelapese islanders , 2000, Nature Genetics.
[68] C. Barnstable,et al. Impairment of rod cGMP-gated channel alpha-subunit expression leads to photoreceptor and bipolar cell degeneration. , 2000, Investigative ophthalmology & visual science.
[69] M. Seeliger,et al. Selective loss of cone function in mice lacking the cyclic nucleotide-gated channel CNG3. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[70] S. Jacobson,et al. Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel , 1998, Nature Genetics.
[71] Oliver Sacks,et al. The Island of the Colorblind , 1997 .
[72] T. L. McGee,et al. Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[73] Fulvio Mavilio,et al. Gene therapy , 1993, Nature.
[74] L. Rubin,et al. The electroretinogram in dogs with inherited cone degeneration. , 1975, Investigative ophthalmology.
[75] L. Rubin,et al. Pathology of hemeralopia in the Alaskan malamute dog. , 1974, Investigative ophthalmology.
[76] Rubin Lf. Clinical features of hemeralopia in the adult Alaskan malamute. , 1971 .
[77] Rubin Lf. Hemeralopia in Alaskan Malamute pups. , 1971 .
[78] L. Rubin. Clinical features of hemeralopia in the adult Alaskan malamute. , 1971, Journal of the American Veterinary Medical Association.