Recycling Small Molecules in the Nervous System

 

Our lab has two primary interests – neurotransmitter recycling and lysosomal storage disorders. Our studies on neurotransmitter recycling focus on defining the molecular mechanisms involved in maintaining sustained release of the amino acid neurotransmitters glutamate and GABA. We are particularly interested in understanding how these mechanisms are altered in the hyperexcitability that underlies epilepsy. Our approach combines molecular biology, biochemistry, electrophysiology and FRET based biosensor imaging in models of epilepsy.

 

Our interests in lysosomal storage disorders are focused on defining the molecular pathophysiology that leads to the prominent neurodevelopmental and neurodegenerative phenotypes seen in many of these disorders. As a model we are studying the lysosomal free sialic acid storage disorders, a group of diseases defined by the loss of sialin, a lysosomal sialic acid transporter. We are studying the normal function and regulation of sialin using biochemistry and cell biological techniques including live cell imaging and defining how mutations in sialin lead to abnormalities in the development of the mammalian nervous system and subsequent neuronal degeneration in an animal model of the human diseases.