My laboratory studies human disorders that involve abnormal synthesis or disposal of glycoproteins. We are currently investigating the pathogenic mechanisms that underlie mucolipidosis II, a lysosomal storage disorder characterized by defects in mannose 6-phosphate biosynthesis, using zebrafish as a model system. In particular, we are interested in understanding how impaired mannose 6-phosphate biosynthesis impacts extracellular matrix deposition and growth factor regulation. Our research efforts also include the identification and characterization of novel glycosylation disorders that arise from defects in vesicle trafficking proteins. With the aid of high-resolution confocal imaging techniques, we are conducting experiments in cultured cells aimed at elucidating the dynamic interplay between Golgi membrane trafficking and protein glycosylation.

We are supported by grants from the NIH and National MPS Society