Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.

PloS one - 1 Jan 2014

Regus-Leidig Hanna, Atorf Jenny, Feigenspan Andreas, Kremers Jan, Maw Marion A, Brandstätter Johann Helmut

Abstract excerpt

Light-dependent conductance changes of voltage-gated Cav1.4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the human CACNA1F gene encoding the α1F subunit of Cav1.4 channels cause an incomplete form of X-linked congenital stationary night blindness (CSNB2). Many CACNA1F mutations are loss-of-function mutations resulting in non-functional Cav1.4 channels, but some...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Calcium Channels
Share to Calcium Channels, L-Type

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Genetic Diseases, X-Linked

Share to Myopia

Share to Night Blindness

Share to Retinal Degeneration

Share to Retinal Rod Photoreceptor Cells

Source

Open in PubMed Open full text

Identifiers

PMID: 24466230
DOI: 10.1371/journal.pone.0086769
PMCID: PMC3897778

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.PMID 24466230Read ↗

Cav1.4 dysfunction and congenital stationary night blindness type 2.Semantic proximity Read ↗

Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.Semantic proximity Read ↗

Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).Semantic proximity Read ↗

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.Semantic proximity Read ↗

Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.Semantic proximity Read ↗

A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.Semantic proximity Read ↗

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

The Ca(v)1.4 calcium channel: more than meets the eye.Semantic proximity Read ↗

Using mutant mice to study the role of voltage-gated calcium channels in the retina.Semantic proximity Read ↗

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.Semantic proximity Read ↗

Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.Semantic proximity Read ↗

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.