Pathogenic Cav1.4 variants differentially affect retinal pathways
Matthias Ganglberger, Lucia Zanetti, Anna-Sophie Egger, Uwe Lux, Alexander Günter, Bettina Wagner, Soumaya Belhadj, Regine Mühlfriedel, Katrin Thedieck, Dagmar Knoflach, Emilio Casanova, Thomas Rülicke, Mathias W. Seeliger, Johann Helmut Brandstätter, Marcel Kwiatkowski, Hartwig Seitter, Alexandra Koschak · FENS Forum 2024
Pathogenic variants in the CACNA1F gene, encoding retinal Cav1.4 L-type calcium channels can lead to a spectrum of altered functional channel activity, affecting the transmission of visual signals from photoreceptors to bipolar cells. Here, we investigated the effect of the Cav1.4 C-terminal truncation variant R1827X (RX) - lacking an intramolecular mechanism, necessary for continuous calcium influx- in mouse retinas and compared the phenotype to the apparent Cav1.4 gain-of-function variant I745T (IT). Whereas the significant decrease in the Cav1.4 protein can be attributed to a loss of photor
ePoster · Neuroscience