Rare genetic variants associated with neurodegeneration
Microtubules (MTs) constitute part of the cell's cytoskeleton and are implicated in key biological processes such as cell division and intracellular vesicle trafficking. Emerging evidence indicates that the tubulin cofactors TBCE and TBCD, implicated in MT dynamics, may also be involved in early-onset neurodegeneration. The EU-funded INNERVATE project will use zebrafish as a model to study the TBCE and TBCD pathogenic mechanisms and impact on brain physiology. Scientists will monitor in real time MTs behaviour and cellular processes in neurons of zebrafish TBCE and TBCD mutants. Results will provide important information on genetic variants associated with neurodegeneration.