Disease Mutations Disrupting Excitability and EC Coupling in Skeletal Muscle

Theme

Better characterize the beneficial role of a variant of the autophagic receptor NDP52 in the context of Alzheimer’s disease

Understanding basic mechanisms involved in the regulation of CaV1.1 and of RyR1 function

About

Demonstrating how excitability and/or EC coupling are altered by specific disease mutations affecting the genes encoding Ca_V1.1, RyR1 and also other proteins involved in the function and/or maintenance of the EC coupling machinery