The structural biology of lysosomal storage diseases and their therapies
Department of Biochemistry and Molecular Biology
University of Massachusetts Amherst
The Garman lab is interested in the basic biology that underlies genetic diseases like Fabry, Gaucher, Tay-Sachs, and Pompe diseases, and how inherited mutations lead to problems in individual proteins. Defects in the proteins lead to loss of enzyme activity, that then lead to disease symptoms. We are particularly interested in the molecular details of how lysosomal enzymes work normally and how they break in patients who inherit defective versions of the gene. The main experimental approaches in the lab use structural biology, including x-ray crystallographic, biophysical, biochemical, and cellular approaches. There have been some interesting recent clinical developments for treating these genetic diseases, so I will present the molecular basis for treatment approaches for the diseases.