Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. - Wikidata - wikimedia - TriplyDB

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

http://www.wikidata.org/entity/Q37423618

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Gene therapy rescues cone function in congenital achromatopsia.AAV-mediated gene therapy in mouse models of recessive retinal degeneration Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia CNTF and retina Inhibition of thyroid hormone receptor locally in the retina is a therapeutic strategy for retinal degeneration.Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia.Five novel CNGB3 gene mutations in Polish patients with achromatopsia Distinct and atypical intrinsic and extrinsic cell death pathways between photoreceptor cell types upon specific ablation of Ranbp2 in cone photoreceptors.Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.Flicker cone function in normal and day blind sheep: a large animal model for human achromatopsia caused by CNGA3 mutation OUTER RETINAL TUBULATION IN ADVANCED AGE-RELATED MACULAR DEGENERATION: Optical Coherence Tomographic Findings Correspond to Histology.CNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration.cGMP/Protein Kinase G Signaling Suppresses Inositol 1,4,5-Trisphosphate Receptor Phosphorylation and Promotes Endoplasmic Reticulum Stress in Photoreceptors of Cyclic Nucleotide-gated Channel-deficient Mice.Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency.Biochemical characterization of cone cyclic nucleotide-gated (CNG) channel using the infrared fluorescence detection system Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia.Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia.The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia.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.cGMP accumulation causes photoreceptor degeneration in CNG channel deficiency: evidence of cGMP cytotoxicity independently of enhanced CNG channel function.Suppressing thyroid hormone signaling preserves cone photoreceptors in mouse models of retinal degeneration.Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies.The function of dog models in developing gene therapy strategies for human health.Gene replacement therapy for retinal CNG channelopathies.Whole exome sequencing unveils a frameshift mutation in CNGB3 for cone dystrophy: A case report of an Indian family.Gene therapy for achromatopsia.Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death Deciphering the function of the CNGB1b subunit in olfactory CNG channels.Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs.PPARα is essential for retinal lipid metabolism and neuronal survival.Targeting iodothyronine deiodinases locally in the retina is a therapeutic strategy for retinal degeneration.Endoplasmic reticulum (ER) Ca2+-channel activity contributes to ER stress and cone death in cyclic nucleotide-gated channel deficiency.Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.

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Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

http://www.wikidata.org/entity/Q37423618

description

article científic

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article scientifique

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articolo scientifico

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bilimsel makale

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scientific article published on 17 September 2009

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vedecký článok

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Impaired cone function and con ...... esis as a potential mechanism.

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Impaired cone function and con ...... esis as a potential mechanism.

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Impaired cone function and con ...... esis as a potential mechanism.

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Human Molecular Genetics

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Impaired cone function and con ...... esis as a potential mechanism.

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Alexander V Matveev

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Cynthia S Harry

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Robert B Barlow

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Steven J Fliesler

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Xi-Qin Ding

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Yumiko Umino

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P2860

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

CNGA3 mutations in hereditary cone photoreceptor disorders

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3

Subunit composition determines Kv1 potassium channel surface expression

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

Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif

Molecular cloning and functional characterization of a new modulatory cyclic nucleotide-gated channel subunit from mouse retina

Loss of CNGB1 protein leads to olfactory dysfunction and subciliary cyclic nucleotide-gated channel trapping

Restoration of cone vision in a mouse model of achromatopsia

Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1

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4770-4780

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10.1093/HMG/DDP440

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24

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18

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19767295

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2778372

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