Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
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Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessX linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F geneMutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophyMechanism of positioning the cell nucleus in vertebrate photoreceptorsRetinal remodeling in human retinitis pigmentosaRetinal dystrophies, genomic applications in diagnosis and prospects for therapyGenetic disruption of voltage-gated calcium channels in psychiatric and neurological disordersThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsNeurite Mistargeting and Inverse Order of Intraretinal Vascular Plexus Formation Precede Subretinal Vascularization in Vldlr Mutant MiceMorphological Diversity of the Rod Spherule: A Study of Serially Reconstructed Electron MicrographsVoltage-Gated Cav1 Channels in Disorders of Vision and HearingBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsEffects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expressionModified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindnessCharacterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human RetinaGenetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo.The diverse roles of ribbon synapses in sensory neurotransmission.Gene expression analysis of mouse embryonic stem cells following levitation in an ultrasound standing wave trap.RNA microarray analysis in prenatal mouse cochlea reveals novel IGF-I target genes: implication of MEF2 and FOXM1 transcription factors.Structure and function of the hair cell ribbon synapseZebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formationThe nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responsesCav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2Localization and expression of CaBP1/caldendrin in the mouse brain.Conical tomography of a ribbon synapse: structural evidence for vesicle fusion.Calcium channels in the development, maturation, and function of spermatozoa.Natural genetic variation caused by small insertions and deletions in the human genomeCalcium channel auxiliary α2δ and β subunits: trafficking and one step beyond.Tyrosinase is the modifier of retinoschisis in mice.Overexpression of guanylate cyclase activating protein 2 in rod photoreceptors in vivo leads to morphological changes at the synaptic ribbon.Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4)More than a pore: ion channel signaling complexesRod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retinaA novel role for the immunoproteasome in retinal function.Calcium channel-dependent molecular maturation of photoreceptor synapses.Dendrites of rod bipolar cells sprout in normal aging retina.Lateral mobility of presynaptic L-type calcium channels at photoreceptor ribbon synapsesCharacterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina
P2860
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P2860
Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
description
2005 nî lūn-bûn
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2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հոտեմբերին հրատարակված գիտական հոդված
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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Mutation of the calcium channe ...... r organization in mouse retina
@ast
Mutation of the calcium channe ...... r organization in mouse retina
@en
Mutation of the calcium channe ...... r organization in mouse retina
@nl
type
label
Mutation of the calcium channe ...... r organization in mouse retina
@ast
Mutation of the calcium channe ...... r organization in mouse retina
@en
Mutation of the calcium channe ...... r organization in mouse retina
@nl
prefLabel
Mutation of the calcium channe ...... r organization in mouse retina
@ast
Mutation of the calcium channe ...... r organization in mouse retina
@en
Mutation of the calcium channe ...... r organization in mouse retina
@nl
P2093
P2860
P3181
P356
P1476
Mutation of the calcium channe ...... r organization in mouse retina
@en
P2093
Derrick E Rancourt
John P Vessey
Melanie R Lalonde
N Torben Bech-Hansen
Noelle C Orton
Steven Barnes
William K Stell
P2860
P304
P3181
P356
10.1093/HMG/DDI336
P407
P577
2005-09-09T00:00:00Z