sp2-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease

• Main Authors: Manuel González-Cuesta (Author), Irene Herrera-González (Author), M. Isabel García-Moreno (Author), Roger A. Ashmus (Author), David J. Vocadlo (Author), José M. García Fernández (Author), Eiji Nanba (Author), Katsumi Higaki (Author), Carmen Ortiz Mellet (Author)
• Format: Book
• Published: Taylor & Francis Group, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The late-onset form of Tay-Sachs disease displays when the activity levels of human β-hexosaminidase A (HexA) fall below 10% of normal, due to mutations that destabilise the native folded form of the enzyme and impair its trafficking to the lysosome. Competitive inhibitors of HexA can rescue disease...