1,6- epi-Cyclophellitol Cyclosulfamidate Is a Bona Fide Lysosomal α-Glucosidase Stabilizer for the Treatment of Pompe Disease

• Kok, Ken
• Kuo, Chi Lin
• Katzy, Rebecca E.
• Lelieveld, Lindsey T.
• Wu, Liang https://orcid.org/0000-0003-0294-7065
• Roig-Zamboni, Véronique
• Van Der Marel, Gijsbert A.
• Codée, Jeroen D.C.
• Sulzenbacher, Gerlind
• Davies, Gideon J. https://orcid.org/0000-0002-7343-776X
• Overkleeft, Herman S.
• Aerts, Johannes M.F.G.
• Artola, Marta

Funding Information: We thank The Netherlands Organization for Scientific Research (NWO-CW, ChemThem grant to J.M.F.G.A. and H.S.O.), the European Research Council (ERC-2011-AdG-290836 “Chembiosphing” to H.S.O., ERC-2012-AdG-322942 “Glycopoise” to G.J.D. and ERC-2020-SyG-951231 “Carbocentre” to H.S.O. and G.J.D.), Sanofi Genzyme (research grant to J.M.F.G.A. and H.S.O. for financial support, postdoctoral contract to M.A. and Myozyme supply). G.J.D. is supported by the Royal Society though the Ken Murray Research Professorship. We kindly thank Giancarlo Parenti, Federico II University Naples, for providing Myozyme samples for structural studies. We thank Andrea Dardis and the Biobank from Patients Affected by ALS Neuromuscular and Lysosomal Diseases (University Hospital of Udine, Italy) for providing us with plasma samples from Pompe patients. We thank Synchrotron Soleil for beam time allocation and the beam line staff for assistance with data collection. This work was also supported in part by the CNRS and the French Infrastructure for Integrated Structural Biology (FRISBI) ANR-10-INSB-05-01. Funding Information: We thank The Netherlands Organization for Scientific Research (NWO-CW, ChemThem grant to J.M.F.G.A. and H.S.O.), the European Research Council (ERC-2011-AdG-290836 “Chembiosphing” to H.S.O., ERC-2012-AdG-322942 “Glycopoise” to G.J.D., and ERC-2020-SyG-951231 “Carbocentre” to H.S.O. and G.J.D.), Sanofi Genzyme (research grant to J.M.F.G.A. and H.S.O. for financial support, postdoctoral contract to M.A. and Myozyme supply). G.J.D. is supported by the Royal Society though the Ken Murray Research Professorship. We kindly thank Giancarlo Parenti, Federico II University, Naples, for providing Myozyme samples for structural studies. We thank Andrea Dardis and the Biobank from Patients Affected by ALS, Neuromuscular and Lysosomal Diseases (University Hospital of Udine, Italy) for providing us with plasma samples from Pompe patients. We thank Synchrotron Soleil for beam time allocation and the beam line staff for assistance with data collection. This work was also supported in part by the CNRS and the French Infrastructure for Integrated Structural Biology (FRISBI) ANR-10-INSB-05-01. Publisher Copyright: © 2022 The Authors. Published by American Chemical Society.

• Published: 2 August 2022

• http://www.scopus.com/inward/record.url?...