Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy

The gating mechanism in cyclic nucleotide-gated ion channels

(2018) Monica Mazzolini et al.   Scientific Reports

Early Microglia Activation Precedes Photoreceptor Degeneration in a Mouse Model of CNGB1-Linked Retinitis Pigmentosa

(2018) Thomas Blank et al.   Frontiers in Immunology

Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach

(2017) Simon M. Petersen-Jones et al.   JOURNAL OF CLINICAL INVESTIGATION

Gene therapy for achromatopsia

(2017) Stylianos Michalakis et al.   JOURNAL OF GENE MEDICINE

Structural insights into the mechanisms of CNBD channel function

(2017) Zachary M. James et al.   JOURNAL OF GENERAL PHYSIOLOGY

AAV8 Can Induce Innate and Adaptive Immune Response in the Primate Eye

(2017) Felix F. Reichel et al.   MOLECULAR THERAPY

Structure of a eukaryotic cyclic-nucleotide-gated channel

(2017) Minghui Li et al.   NATURE

The Na+/Ca2+, K+ exchanger NCKX4 is required for efficient cone-mediated vision

(2017) Frans Vinberg et al.   eLife

AAV-Mediated Gene Supplementation Therapy in Achromatopsia Type 2: Preclinical Data on Therapeutic Time Window and Long-Term Effects

(2017) Regine Mühlfriedel et al.   Frontiers in Neuroscience

Safety and Efficacy of AAV5 Vectors Expressing Human or Canine CNGB3 in CNGB3-Mutant Dogs

(2017) Guo-jie Ye et al.   Human Gene Therapy Clinical Development

Safety and Efficacy Evaluation of rAAV2tYF-PR1.7-hCNGA3 Vector Delivered by Subretinal Injection in CNGA3 Mutant Achromatopsia Sheep

(2017) Elisha Gootwine et al.   Human Gene Therapy Clinical Development

Long-term retinal cone rescue using a capsid mutant AAV8 vector in a mouse model of CNGA3-achromatopsia

(2017) Xufeng Dai et al.   PLoS One

Safety and Biodistribution Evaluation in CNGB3-Deficient Mice of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia

(2016) Guo-jie Ye et al.   Human Gene Therapy Clinical Development

Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-PR1.7-hCNGB3, a Recombinant AAV Vector for Treatment of Achromatopsia

(2016) Guo-jie Ye et al.   Human Gene Therapy Clinical Development

Progressive retinal atrophy in Shetland sheepdog is associated with a mutation in theCNGA1gene

(2015) A. C. Wiik et al.   ANIMAL GENETICS

The cone dysfunction syndromes: Table 1

(2015) Jonathan Aboshiha et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Achromatopsia

(2015) Meredith H. Remmer et al.   CURRENT OPINION IN OPHTHALMOLOGY

Adeno-associated virus serotypes for gene therapeutics

(2015) Leszek Lisowski et al.   CURRENT OPINION IN PHARMACOLOGY

Retinal gene delivery by adeno-associated virus (AAV) vectors: Strategies and applications

(2015) Christian Schön et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Vitreal delivery of AAV vectored Cnga3 restores cone function in CNGA3-/-/Nrl-/- mice, an all-cone model of CNGA3 achromatopsia

(2015) W. Du et al.   HUMAN MOLECULAR GENETICS

Gene Augmentation Therapy Restores Retinal Function and Visual Behavior in a Sheep Model of CNGA3 Achromatopsia

(2015) Eyal Banin et al.   MOLECULAR THERAPY

Achromatopsia: On the Doorstep of a Possible Therapy

(2015) Ditta Zobor et al.   OPHTHALMIC RESEARCH

Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment

(2015) Naoto Tanaka et al.   PLoS One

Biosafety of Recombinant Adeno-associated Virus Vectors

(2014) David Dismuke et al.   CURRENT GENE THERAPY

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

(2014) Satoshi Katagiri et al.   PLoS One

Vector platforms for gene therapy of inherited retinopathies

(2014) Ivana Trapani et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Clinical utility gene card for: Achromatopsia - update 2013

(2013) Susanne Kohl et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia

(2013) András M Komáromy et al.   MOLECULAR THERAPY

A largely random AAV integration profile after LPLD gene therapy

(2013) Christine Kaeppel et al.   NATURE MEDICINE

A Large Animal Model for CNGB1 Autosomal Recessive Retinitis Pigmentosa

(2013) Paige A. Winkler et al.   PLoS One

Immunology of AAV-Mediated Gene Transfer in the Eye

(2013) Keirnan Willett et al.   Frontiers in Immunology

Gene therapy restores vision and delays degeneration in the CNGB1-/- mouse model of retinitis pigmentosa

(2012) S. Koch et al.   HUMAN MOLECULAR GENETICS

CNG-Modulin: A Novel Ca-Dependent Modulator of Ligand Sensitivity in Cone Photoreceptor cGMP-Gated Ion Channels

(2012) T. I. Rebrik et al.   JOURNAL OF NEUROSCIENCE

AAV-Mediated Cone Rescue in a Naturally Occurring Mouse Model of CNGA3-Achromatopsia

(2012) Ji-jing Pang et al.   PLoS One

Speed, sensitivity, and stability of the light response in rod and cone photoreceptors: Facts and models

(2012) Juan I. Korenbrot   PROGRESS IN RETINAL AND EYE RESEARCH

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy

(2011) L. S. Carvalho et al.   HUMAN MOLECULAR GENETICS

The Glutamic Acid-Rich Protein Is a Gating Inhibitor of Cyclic Nucleotide-Gated Channels

(2011) S. Michalakis et al.   JOURNAL OF NEUROSCIENCE

Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges

(2011) Federico Mingozzi et al.   NATURE REVIEWS GENETICS

Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels

(2011) Noah G. Shuart et al.   Nature Communications

Gene therapy rescues cone function in congenital achromatopsia

(2010) András M. Komáromy et al.   HUMAN MOLECULAR GENETICS

Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa

(2010) D. A. Simpson et al.   JOURNAL OF MEDICAL GENETICS

Restoration of Cone Vision in the CNGA3−/− Mouse Model of Congenital Complete Lack of Cone Photoreceptor Function

(2010) Stylianos Michalakis et al.   MOLECULAR THERAPY

Achromatopsie

(2010) C.M. Poloschek et al.   OPHTHALMOLOGE

The Retinitis Pigmentosa Mutation c.3444+1G>A in CNGB1 Results in Skipping of Exon 32

(2010) Elvir Becirovic et al.   PLoS One

A mutation in gene CNGA3 is associated with day blindness in sheep

(2009) Shay Reicher et al.   GENOMICS

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

(2009) X.-Q. Ding et al.   HUMAN MOLECULAR GENETICS

Knockout of GARPs and the  -subunit of the rod cGMP-gated channel disrupts disk morphogenesis and rod outer segment structural integrity

(2009) Y. Zhang et al.   JOURNAL OF CELL SCIENCE

A novel day blindness in sheep: Epidemiological, behavioural, electrophysiological and histopathological studies

(2009) Merav H. Shamir et al.   VETERINARY JOURNAL

Gene Therapy Using Adeno-Associated Virus Vectors

(2008) S. Daya et al.   CLINICAL MICROBIOLOGY REVIEWS