Brian Ranes
Amicus Therapeutics (United States)(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycosylation and Glycoproteins Research, Cellular transport and secretion, Carbohydrate Chemistry and Synthesis, Biochemical and Molecular Research
Most-Cited Works
- → The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase(2010)158 cited
- → A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy(2014)106 cited
- → Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice(2012)93 cited
- → 114. Pharmacological chaperone therapy for Gaucher disease: Mechanism of action, a survey of responsive mutations and phase I clinical trial results(2008)4 cited
- → The origins of glucosylsphingosine in Gaucher disease(2013)4 cited
- → Exploring the Use of Pharmacological Chaperone AT3375 Alone and in Combination with Recombinant human ß-Glucosidase for Gaucher Disease(2012)3 cited
- → 55. An adjunct rhGAA ERT-small molecule treatment approach for Pompe disease: Pharmacological chaperone AT2220 prevents rhGAA denaturation and loss of enzyme activity(2009)
- → G.P.11.06 Pharmacological chaperone therapy for Pompe disease: Phase 1 clinical trials and ex vivo response study results(2008)
- → 113. Development of an improved assay for measuring GAA enzyme activity in Ficoll-isolated peripheral blood mononuclear cells(2009)