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

doi:10.1093/hmg/ddt541

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Article

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

Human molecular genetics - 15 Mar 2014

Michalakis Stylianos, Shaltiel Lior, Sothilingam Vithiyanjali, Koch Susanne, Schludi Verena, Krause Stefanie, Zeitz Christina, Audo Isabelle, Lancelot Marie-Elise, Hamel Christian, Meunier Isabelle, Preising Markus N, Friedburg Christoph, Lorenz Birgit, Zabouri Nawal, Haverkamp Silke, Garcia Garrido Marina, Tanimoto Naoyuki, Seeliger Mathias W, Biel Martin, Wahl-Schott Christian A

Abstract excerpt

Mutations in CACNA1F encoding the α1-subunit of the retinal Cav1.4 L-type calcium channel have been linked to Cav1.4 channelopathies including incomplete congenital stationary night blindness type 2A (CSNB2), Åland Island eye disease (AIED) and cone-rod dystrophy type 3 (CORDX3). Since CACNA1F is located on the X chromosome, Cav1.4 channelopathies are typically affecting male patients via X-chromosomal recessive...

Topics

Animals
Calcium Channels
Calcium Channels, L-Type
Disease Models, Animal
Electroretinography
Eye Diseases, Hereditary
Female
Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Heterozygote

Humans

Male

Mice

Mice, Knockout

Mutation, Missense

Myopia

Night Blindness

Phenotype

Retina

Source

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Identifiers

PMID: 24163243
DOI: 10.1093/hmg/ddt541
PMCID: PMC3929091

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