Cav1.4 dysfunction and congenital stationary night blindness type 2

Function of cone and cone-related pathways in CaV1.4 IT mice

(2021) Lucia Zanetti et al.   Scientific Reports

DNA Methylation Editing by CRISPR-guided Excision of 5-Methylcytosine

(2020) Iván Devesa-Guerra et al.   JOURNAL OF MOLECULAR BIOLOGY

Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder

(2020) Nadja T. Hofer et al.   Molecular Autism

Gene editing and CRISPR in the clinic: current and future perspectives

(2020) Matthew P. Hirakawa et al.   BIOSCIENCE REPORTS

Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels

(2020) Brittany Williams et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A dual role for Cav1.4 Ca2+ channels in the molecular and structural organization of the rod photoreceptor synapse

(2020) J Wesley Maddox et al.   eLife

Transgenic Expression of Cacna1f Rescues Vision and Retinal Morphology in a Mouse Model of Congenital Stationary Night Blindness 2A (CSNB2A)

(2020) Derek M. Waldner et al.   Translational Vision Science & Technology

Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina

(2019) Patrizia Tornabene et al.   Science Translational Medicine

Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation–Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials

(2019) Albert M. Maguire et al.   OPHTHALMOLOGY

Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)

(2018) D. M. Waldner et al.   Channels

α2δ-4 is required for the molecular and structural organization of rod and cone photoreceptor synapses

(2018) Vasily Kerov et al.   JOURNAL OF NEUROSCIENCE

Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy

(2018) Francesca Pasutto et al.   OPHTHALMIC GENETICS

Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

(2018) Ehab Abdelkader et al.   OPHTHALMIC GENETICS

Voltage-Gated Calcium Channels: Key Players in Sensory Coding in the Retina and the Inner Ear

(2018) Tina Pangrsic et al.   PHYSIOLOGICAL REVIEWS

Splicing of an automodulatory domain in Cav1.4 Ca2+ channels confers distinct regulation by calmodulin

(2018) Brittany Williams et al.   JOURNAL OF GENERAL PHYSIOLOGY

Photoreceptor degeneration in a new Cacna1f mutant mouse model

(2018) Xufeng Dai et al.   EXPERIMENTAL EYE RESEARCH

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy

(2017) Alexandra Pinggera et al.   HUMAN MOLECULAR GENETICS

Lower Affinity of Isradipine for L-Type Ca 2+ Channels during Substantia Nigra Dopamine Neuron-Like Activity: Implications for Neuroprotection in Parkinson's Disease

(2017) Nadine J. Ortner et al.   JOURNAL OF NEUROSCIENCE

The Auxiliary Calcium Channel Subunit α2δ4 Is Required for Axonal Elaboration, Synaptic Transmission, and Wiring of Rod Photoreceptors

(2017) Yuchen Wang et al.   NEURON

Linker flexibility of IVS3-S4 loops modulates voltage-dependent activation of L-type Ca2+ channels

(2016) Nan Liu et al.   Channels

In vitroandin vivorescue of aberrant splicing inCEP290-associated LCA by antisense oligonucleotide delivery

(2016) Alejandro Garanto et al.   HUMAN MOLECULAR GENETICS

Characterization of C-terminal Splice Variants of Cav1.4 Ca2+Channels in Human Retina

(2016) Françoise Haeseleer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Gene Insertion Into Genomic Safe Harbors for Human Gene Therapy

(2016) Eirini P Papapetrou et al.   MOLECULAR THERAPY

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

(2016) Jianping Wu et al.   NATURE

The cone dysfunction syndromes: Table 1

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

Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells

(2015) Dagmar Knoflach et al.   Channels

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

(2015) Christina Zeitz et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Cell-type-specific tuning of Cav1.3 Ca2+-channels by a C-terminal automodulatory domain

(2015) Anja Scharinger et al.   Frontiers in Cellular Neuroscience

Electroretinographic assessment of rod- and cone-mediated bipolar cell pathways using flicker stimuli in mice

(2015) Naoyuki Tanimoto et al.   Scientific Reports

Identification of a Novel Heterozygous Missense Mutation in theCACNA1FGene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

(2015) Qi Zhou et al.   Biomed Research International

TALEN-mediated genome editing: prospects and perspectives

(2014) David A. Wright et al.   BIOCHEMICAL JOURNAL

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

(2014) Verena Burtscher et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Long QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypes

(2014) Megumi Fukuyama et al.   EUROPACE

Genotype–phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing

(2014) Xiu-Feng Huang et al.   GENETICS IN MEDICINE

Characterization of Cav1.4 Complexes (α11.4, β2, and α2δ4) in HEK293T Cells and in the Retina

(2014) Amy Lee et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Structural Insights into Activation of the Retinal L-type Ca2+Channel (Cav1.4) by Ca2+-binding Protein 4 (CaBP4)

(2014) Saebomi Park et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Photoreceptor Degeneration in Two Mouse Models for Congenital Stationary Night Blindness Type 2

(2014) Hanna Regus-Leidig et al.   PLoS One

Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2

(2013) Dagmar Knoflach et al.   Channels

Dysregulation of Cav1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2

(2013) Xiaoni Liu et al.   Channels

Effective delivery of large genes to the retina by dual AAV vectors

(2013) Ivana Trapani et al.   EMBO Molecular Medicine

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2

(2013) Stylianos Michalakis et al.   HUMAN MOLECULAR GENETICS

Genotype and Phenotype of 101 Dutch Patients with Congenital Stationary Night Blindness

(2013) Mieke M.C. Bijveld et al.   OPHTHALMOLOGY

Calcium Channel-Dependent Molecular Maturation of Photoreceptor Synapses

(2013) Nawal Zabouri et al.   PLoS One

Manipulating L-type calcium channels in cardiomyocytes using split-intein protein transsplicing

(2013) P. Subramanyam et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

What can naturally occurring mutations tell us about Cav1.x channel function?

(2012) Thomas Stockner et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Complex Regulation of Voltage-dependent Activation and Inactivation Properties of Retinal Voltage-gated Cav1.4 L-type Ca2+Channels by Ca2+-binding Protein 4 (CaBP4)

(2012) Lior Shaltiel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Calcium channel auxiliary α2δ and β subunits: trafficking and one step beyond

(2012) Annette C. Dolphin   NATURE REVIEWS NEUROSCIENCE

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

(2012) Isabelle Audo et al.   Orphanet Journal of Rare Diseases

Structure and function of a complex sensory synapse

(2011) H. Regus-Leidig et al.   Acta Physiologica

Functional Properties of a Newly Identified C-terminal Splice Variant of Cav1.3 L-type Ca2+Channels

(2011) Gabriella Bock et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Alternative Splicing at C Terminus of CaV1.4 Calcium Channel Modulates Calcium-dependent Inactivation, Activation Potential, and Current Density

(2011) Gregory Ming Yeong Tan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Release from the cone ribbon synapse under bright light conditions can be controlled by the opening of only a few Ca2+ channels

(2011) Theodore M. Bartoletti et al.   JOURNAL OF NEUROPHYSIOLOGY

Enzyme-inhibitor-like tuning of Ca2+ channel connectivity with calmodulin

(2010) Xiaodong Liu et al.   NATURE

Genome editing with engineered zinc finger nucleases

(2010) Fyodor D. Urnov et al.   NATURE REVIEWS GENETICS

The β Subunit of Voltage-Gated Ca2+ Channels

(2010) Zafir Buraei et al.   PHYSIOLOGICAL REVIEWS

Calmodulin Is a Functional Regulator of Cav1.4 L-type Ca2+Channels

(2009) Kristina Griessmeier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Horizontal cell feedback regulates calcium currents and intracellular calcium levels in rod photoreceptors of salamander and mouse retina

(2009) Norbert Babai et al.   JOURNAL OF PHYSIOLOGY-LONDON

Characterization of Genome Integrity for Oversized Recombinant AAV Vector

(2009) Biao Dong et al.   MOLECULAR THERAPY

Effect of Genome Size on AAV Vector Packaging

(2009) Zhijian Wu et al.   MOLECULAR THERAPY

Nonsense-mediated mRNA decay (NMD) mechanisms

(2009) Saverio Brogna et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Therapeutic benefit derived from RNAi-mediated ablation of IMPDH1 transcripts in a murine model of autosomal dominant retinitis pigmentosa (RP10)

(2008) Lawrence C.S. Tam et al.   HUMAN MOLECULAR GENETICS

Modulation of Voltage- and Ca2+-dependent Gating of CaV1.3 L-type Calcium Channels by Alternative Splicing of a C-terminal Regulatory Domain

(2008) Anamika Singh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology

(2007) Mary A. Raven et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Temperature dependence of Cav1.4 calcium channel gating

(2007) J.B. Peloquin et al.   NEUROSCIENCE