The seminar will focus on the molecular mechanisms underlying incomplete congenital stationary night blindness type 2, or CSNB2, a retinal disorder caused by pathogenic variants in the X-linked CACNA1F gene, which encodes the Cav1.4 calcium channel.
Matthias Ganglberger, PhD will present how disease-associated alterations in Cav1.4 affect retinal function, cellular signaling and proteome organization. The lecture will move from functional and histological analyses to data-independent proteomic profiling of whole retina and synapse-enriched fractions, showing how the scale of molecular dysregulation reflects phenotypic severity.
The talk will also cover a workflow combining FACS-based isolation of rods and cones with high-resolution mass spectrometry. This approach reveals distinct adaptive and compensatory responses across photoreceptor populations. Together, these findings provide a molecular framework for CSNB2 and point to pathways that may help guide future targeted therapeutic strategies.
About the speaker
Matthias Ganglberger, PhD earned his doctorate in Pharmacology at the University of Innsbruck, where he investigated the molecular environment of retinal Cav1.4 channels. His doctoral work was supported by an ÖAW DOC Fellowship and a Tyrolean grant for young investigators, and his thesis was selected as a top-three finalist for the ANA Best Thesis Award 2025.
He is currently a postdoctoral researcher in the laboratory of Prof. Alexandra Koschak. His research focuses on how disease-associated alterations in the Cav1.4 L-type calcium channel contribute to incomplete congenital stationary night blindness type 2.
His work combines proteomics, fluorescence-activated cell sorting, or FACS, and bioinformatics to study how Cav1.4 variants affect retinal biology, photoreceptor populations and molecular organization.
