Science & Technology

Journal Articles

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat Benjamin ER et al., Genetics in Medicine: advance online publication 22 September 2016. doi:10.1038/gim.2016.122
Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat Germain D.P., et al., The New England Journal of Medicine: 2016, 375:545-555, doi: 10.1056/NEJMoa1510198
Safety and Pharmacodynamic Effects of a Pharmacological Chaperone on Alpha-Galactosidase A Activity and Globotriaosylceramide Clearance in Fabry disease: Report from Two Phase 2 Clinical Studies Germain D.P., et al., Orphanet Journal of Rare Diseases: 2012, 7:91 doi:10.1186/1750-1172-7-91
A Phase 2 Study of Migalastat Hydrochloride in Females with Fabry Disease: Selection of Population, Safety and Pharmacodynamic Effects Giugliani R, et al., Molecular Genetics and Metabolism: 2013, doi:10.1016/j.ymgme.2013.01.009.
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients Young-Gqamana B, et al., PLoS ONE 8(3): e57631. doi:10.1371/journal.pone.0057631
A Novel, Quantitative Method to Evaluate GL-3 Inclusions in Renal Peritubular Capillaries by Virtual Microscopy in Patients with Fabry Disease Barisoni L, et al., Archives of Pathology & Laboratory Medicine: July 2012, Vol. 136, No. 7, pp. 816-824.
Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers Johnson F, et al., Clinical Pharm in Drug Dev. (2013), doi:10.1002/cpdd.1.
Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice Benjamin E, et al., Molecular Therapy: April 2012, Vol. 20, No. 4, pp. 717–726.
The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease Khanna R, et al., PLoS ONE (2012) 7(7): e40776. doi:10.1371/journal.pone.0040776.
A Pharmacogenetic Approach to Identify Mutant Forms of a-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease Wu X, et al., Human Mutation: July 2011, Vol. 32, No. 8, pp. 965–977.
Fabry Disease: Polymorphic Haplotypes and a Novel Missense Mutation in the GLA gene Ferri L, et al., Clin Genet 2011 Apr 25. j.1399-0004.01689.x.
Sex Differences of Urinary and Kidney Globotriaosylceramide and Lyso-Globotriaosylceramide in Fabry Mice Durant B, et al., J Lipid Res. 2011 Sep; 52(9):1742-6.
The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease Khanna R, et al., Molecular Therapy: 2010 Jan; 18(1):23-33. doi: 10.1038/mt.2009.220.
The Pharmacological Chaperone 1-Deoxynojirimycin Increases the Activity and Lysosomal Trafficking of Multiple Mutant Forms of Acid Alpha-Glucosidase Flanagan J, et al., Human Mutation: December 2009, Vol. 30, No. 12, pp.1683-92.
Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases Boyd R, et al., J. Med. Chem. (2013), DOI: 10.1021/jm301557k
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders Valenzano, K, et al., Assay Drug Dev Technol. 2011 Jun;9(3):213-35.
New Pathway Links γ-Secretase to Inflammation and Memory While Sparing Notch Gandy S, et al., Ann Neurol. 2011 Jan;69(1):5-7.
The Pharmacological Chaperone Isofagomine Increases the Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase Khanna R, et al., FEBS J, April 2010; 277(7): 1618–1638.
Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-β Peptide Keilani, et al., The Journal of Neuroscience, April 11, 2012 32(15):5223–5236.