Project Treat-ION TP4 – Treat-ION - Neue Therapien für neurologische Ionenkanal- und Transporterstörungen

Basic data

Acronym:
Treat-ION TP4
Title:
Treat-ION - Neue Therapien für neurologische Ionenkanal- und Transporterstörungen
Duration:
01/05/2019 to 30/04/2022
Abstract / short description:
In a well characterized German ataxia cohort, we have detected 17 such variants in the CACNA1A gene, encoding the CaV2.1 voltage gated calcium channel. Given the large number of CACNA1A disease associated mutations described to date, we aim to utilize a rapid and powerful genetic model – Drosophila melanogaster – to investigate selected variants. Its highly conserved CACNA1A ortholog cacophony will be used to (i) test the pathogenicity of candidate variants; (ii) assess whether the mutations in- or decrease channel activity and (iii) perform preliminary pharmacological studies.
Keywords:
Ataxia, CACNA1A, Drosophila, cacophony, electrophysiology, drug screen

Staff

Managers

University Department of Neurology
Hospitals and clinical institutes, Faculty of Medicine

Local organizational units

Department of Neurology with Focus on Neurodegenerative Disorders
University Department of Neurology
Hospitals and clinical institutes, Faculty of Medicine

Funders

Bonn, Nordrhein-Westfalen, Germany
Help

will be deleted permanently. This cannot be undone.