The Yash Gandhi Foundation has awarded a total of $264,000 in research grants to several academic institutions. With the funding of research from the Yash Gandhi Foundation, these institutions have been working in collaboration and conducting research to investigate the molecular basis of I-cell disease and develop in-vitro methods (particularly in the zebra-fish model) to identify the root cause of defective enzymes that might contribute to the development of disease symptoms. This information may lead to new therapies to treat ML disease.
1. Qian, Y., Van Meel, E., Flanagan-Steet, H., Yox, A., Steet, R., and Kornfeld, S. Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:Lysosomal Enzyme GlcNAc-1-Phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition. J. Biol. Chem., 290:3045-3056, 2015. Read full paper.
2. Van Meel, E., Lee, W.S., Liu, L., Qian, Y., Doray, B., and Kornfeld, S. Multiple domains of GlcNAc-1-phosphotransferase mediate recognition of lysosomal enzymes. J. Biol. Chem., 291:8295-8304, 2016. Read full paper.
3. Van Meel, E., and Kornfeld, S. Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the gamma Subunit of GlcNAc-1-Phosphotransferase. Human Mutation, 37:623-626, 2016.
4. Liu, L., Lee, W.S., Doray, B., and Kornfeld, S. Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase. FEBS Letters, 591:47-55, 2016. Read full paper.
5. Liu, L., Lee, W.S., Doray, B., and Kornfeld, S. Engineering of GlcNAc-1-PHosphotransferase for Production of Highly Phosphorylated Lysosomal Enzymes for Enzyme Replacement Therapy. Molecular Therapy: Methods & Clinical Development, 5:59-65, 2017. Read full paper.