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

A Cyclic Nucleotide-Gated Channel Mutation Associated with Canine Daylight Blindness Provides Insight into a Role for the S2 Segment Tri-Asp motif in Channel Biogenesis

(2014) Naoto Tanaka et al.   PLoS One

A Novel Form of Progressive Retinal Atrophy in Swedish Vallhund Dogs

(2014) Ann E. Cooper et al.   PLoS One

Causes and consequences of inherited cone disorders

(2014) Susanne Roosing et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Ligand-induced structural changes in the cyclic nucleotide-modulated potassium channel MloK1

(2014) Julia Kowal et al.   Nature Communications

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

(2013) Gucan Dai et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

Guidelines for clinical electroretinography in the dog: 2012 update

(2013) Björn Ekesten et al.   DOCUMENTA OPHTHALMOLOGICA

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

(2013) Hongwei Ma et al.   HUMAN MOLECULAR GENETICS

Gene replacement therapy for retinal CNG channelopathies

(2013) Christian Schön et al.   MOLECULAR GENETICS AND GENOMICS

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

(2013) András M Komáromy et al.   MOLECULAR THERAPY

New perspectives in cyclic nucleotide-mediated functions in the CNS: the emerging role of cyclic nucleotide-gated (CNG) channels

(2013) Maria Vittoria Podda et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Recombinant AAV-Mediated BEST1 Transfer to the Retinal Pigment Epithelium: Analysis of Serotype-Dependent Retinal Effects

(2013) Karina E. Guziewicz et al.   PLoS One

Structure of the carboxy-terminal region of a KCNH channel

(2012) Tinatin I. Brelidze et al.   NATURE

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

(2012) Ji-jing Pang et al.   PLoS One

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa

(2012) W. A. Beltran et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Computational design of a protein crystal

(2012) C. J. Lanci et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mechanism of Electromechanical Coupling in Voltage-Gated Potassium Channels

(2012) Rikard Blunck et al.   Frontiers in Pharmacology

Coupling of Voltage-Sensors to the Channel Pore: A Comparative View

(2012) Vitya Vardanyan et al.   Frontiers in Pharmacology

Theoretical and Computational Protein Design

(2011) Ilan Samish et al.   Annual Review of Physical Chemistry

Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 Mutations

(2011) Samuel G. Jacobson   ARCHIVES OF OPHTHALMOLOGY

Tetramerization Dynamics of C-terminal Domain Underlies Isoform-specific cAMP Gating in Hyperpolarization-activated Cyclic Nucleotide-gated Channels

(2011) Marco Lolicato et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Intermediate states of the Kv1.2 voltage sensor from atomistic molecular dynamics simulations

(2011) L. Delemotte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Neurological Channelopathies

(2010) Dimitri M. Kullmann   Annual Review of Neuroscience

Gene therapy rescues cone function in congenital achromatopsia

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

Structural Basis for the cAMP-dependent Gating in the Human HCN4 Channel

(2010) Xinping Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Stylianos Michalakis et al.   MOLECULAR THERAPY

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

(2010) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

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

(2009) Shay Reicher et al.   GENOMICS

Human RPE65 Gene Therapy for Leber Congenital Amaurosis: Persistence of Early Visual Improvements and Safety at 1 Year

(2009) Artur V. Cideciyan et al.   HUMAN GENE THERAPY

Structural specificity in coiled-coil interactions

(2008) G GRIGORYAN et al.   CURRENT OPINION IN STRUCTURAL BIOLOGY

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) William W. Hauswirth et al.   HUMAN GENE THERAPY

hERG Gating Microdomains Defined by S6 Mutagenesis and Molecular Modeling

(2008) Sarah L. Wynia-Smith et al.   JOURNAL OF GENERAL PHYSIOLOGY

Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis

(2008) Albert M. Maguire et al.   NEW ENGLAND JOURNAL OF MEDICINE