We study the role of lipid processing pathways in demyelinating neurodegenerative disease. We are interested in how the composition of cellular membranes is maintained and what the effects are when this composition is altered. Lipids and proteins need to be correctly trafficked between intracellular compartments and the plasma membrane. This trafficking includes the synthesis of new components and the degradation of old components. Several severe, early-onset neurodegenerative disorders are caused by defects in the ability to degrade essential lipids in the lysosome. We are using a range of molecular and cellular approaches to understand the underlying mechanisms of rare, genetic neurodegenerative and demyelinating diseases.
Molecular imaging in neurodegenerative diseases.
Immunofluorescence image of neurons encoding a mutation that causes Tay-Sachs diseases (left); Electron microscopy structure of a protein essential for myelin-axon contacts in Krabbe disease (right).
