Enzyme enhancement activity of N-octyl-β-valienamine on β-glucosidase mutants associated with Gaucher disease
- 31 May 2007
- journal article
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1772 (5) , 587-596
- https://doi.org/10.1016/j.bbadis.2007.02.003
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Substrate reduction therapy of glycosphingolipid storage disordersJournal of Inherited Metabolic Disease, 2006
- Ten years’ experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher diseaseActa Paediatrica, 2006
- Gaucher Disease-Associated Glucocerebrosidases Show Mutation-Dependent Chemical Chaperoning ProfilesChemistry & Biology, 2005
- ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneityHuman Molecular Genetics, 2005
- N-Octyl-β-valienamine up-regulates activity of F213I mutant β-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher diseaseBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2004
- Pharmacological chaperones: potential treatment for conformational diseasesTrends in Endocrinology & Metabolism, 2004
- Therapeutic approaches to protein-misfolding diseasesNature, 2003
- Enzyme replacement and enhancement therapies: lessons from lysosomal disordersNature Reviews Genetics, 2002
- Chemical modification of β-glucocerebrosidase inhibitor N -octyl-β-valienamine: synthesis and biological evaluation of N -alkanoyl and N -alkyl derivativesBioorganic & Medicinal Chemistry, 1998
- Replacement Therapy for Inherited Enzyme Deficiency — Macrophage-Targeted Glucocerebrosidase for Gaucher's DiseaseNew England Journal of Medicine, 1991