Timothy syndrome mutations provide new insights into the structure of L-calcium channel
Thursday, July 14, 2011 - 10:30
in Biology & Nature
The human genome encodes 243 voltage-gated ion channels. Mutations in calcium channels can cause severe inherited diseases such as migraine, night blindness, autism spectrum disorders and Timothy syndrome, which leads to severe cardiovascular disorders. Katrin Depil and Anna Stary-Weinzinger together with colleagues from the Department of Pharmacology and Toxicology, University of Vienna analyzed changes in molecular organization of calcium channels caused by Timothy syndrome mutations. Recently, they published their current research results in the Journal of Biological Chemistry.