E. Benjamin

发表

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

J. Flanagan, Gary Lee, A. Powe, 2011, Assay and drug development technologies.

Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide

D. Lockhart, R. Schiffmann, Matthew R. G. Taylor, 2014, Journal of the American Heart Association.

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment

H. Williams, B. Najafian, M. Mauer, 2017, Journal of Medical Genetics.

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: selection of population, safety and pharmacodynamic effects.

D. Bichet, R. Giugliani, K. Nicholls, 2013, Molecular genetics and metabolism.

Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study

R. Colvin, D. Bichet, R. Giugliani, 2019, Genetics in Medicine.

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

D. Lockhart, A. Mehta, R. Giugliani, 2013, PloS one.

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

R. Schiffmann, L. Sweetman, N. Brignol, 2011, Journal of Lipid Research.

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

D. Lockhart, B. Byrne, J. Flanagan, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

Glucosylceramide and Glucosylsphingosine Quantitation by Liquid Chromatography-Tandem Mass Spectrometry to Enable In Vivo Preclinical Studies of Neuronopathic Gaucher Disease.

R. Khanna, R. Boyd, K. Valenzano, 2017, Analytical chemistry.

Pharmacological chaperones as therapeutics for lysosomal storage diseases.

Gary Lee, B. Wustman, R. Khanna, 2013, Journal of medicinal chemistry.

Glucosylceramide and glucosylsphingosine quantitation by liquid chromotography-tandem mass spectrometry to enable studies of neuronopathic Gaucher disease

R. Khanna, R. Boyd, K. Valenzano, 2014 .

Glucosylceramide Quantitation in Normal and Glucocerebrosidase-Deficient Mouse Brain and Human Cell Lines

D. Lockhart, R. Khanna, N. Brignol, 2012 .

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

D. Lockhart, J. Flanagan, Y. Lun, 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

D. Lockhart, J. Flanagan, R. Desnick, 2009, Journal of Inherited Metabolic Disease.

Pharmacological Chaperones as Potential Therapeutics for Lysosomal Storage Disorders: Preclinical Research to Clinical Studies

R. Khanna, R. Boyd, K. Valenzano, 2016 .

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice

D. Lockhart, S. Sullivan, Y. Lun, 2015, Molecular therapy : the journal of the American Society of Gene Therapy.

Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: Phase 3 study results

R. Schiffmann, W. Wilcox, D. Bichet, 2015 .

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

D. Lockhart, R. Schiffmann, C. Barlow, 2016, Journal of Medical Genetics.

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

D. Lockhart, R. Schiffmann, C. Barlow, 2016, Genetics in Medicine.

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

D. Lockhart, S. Packman, R. Schiffmann, 2016, The New England journal of medicine.

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.

D. Lockhart, R. Desnick, Y. Lun, 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

The migalastat GLP-HEK assay is the gold standard for determining amenability in patients with Fabry disease

R. Schiffmann, D. Bichet, R. Giugliani, 2019, Molecular genetics and metabolism reports.

A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease

D. Lockhart, R. Schiffmann, J. Flanagan, 2011, Human mutation.

Low frequency of Fabry disease in patients with common heart disease

R. Schiffmann, N. McNeill, L. Sweetman, 2018, Genetics in Medicine.

Low frequency of Fabry disease in patients with common heart disease

R. Schiffmann, N. McNeill, E. Benjamin, 2017, Genetics in Medicine.

A Miniaturized Column Chromatography Method for Measuring Receptor-Mediated Inositol Phosphate Accumulation

M. Hachicha, K. Valenzano, E. Benjamin, 2004, Journal of biomolecular screening.

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β‐glucosidase

D. Lockhart, R. Schiffmann, Y. Lun, 2010, The FEBS journal.

Validation of a Fluorescent Imaging Plate Reader Membrane Potential Assay for High-Throughput Screening of Glycine Transporter Modulators

K. Valenzano, E. Benjamin, V. Ilyin, 2005, Journal of biomolecular screening.

Pharmacological Chaperones: Potential for the Treatment of Hereditary Diseases Caused by Mutations in G Protein‐Coupled Receptors

M. Bouvier, K. Valenzano, E. Benjamin, 2010 .

State-Dependent Compound Inhibition of Nav1.2 Sodium Channels Using the FLIPR Vm Dye: On-Target and Off-Target Effects of Diverse Pharmacological Agents

K. Valenzano, E. Benjamin, V. Ilyin, 2006, Journal of biomolecular screening.

The pharmacological chaperone 1‐deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha‐glucosidase

D. Lockhart, J. Flanagan, M. Cubellis, 2009, Human mutation.

and Off-Target Effects of Diverse Pharmacological Agents Dye: On-Target m 1.2 Sodium Channels Using the FLIPR V v State-Dependent Compound Inhibition of Na

K. Valenzano, E. Benjamin, V. Ilyin, 2013 .

Pharmacological characterization of recombinant N-type calcium channel (Cav2.2) mediated calcium mobilization using FLIPR.

K. Valenzano, E. Benjamin, V. Ilyin, 2006, Biochemical pharmacology.

Pharmacology of 2-[4-(4-Chloro-2-fluorophenoxy)phenyl]-pyrimidine-4-carboxamide: A Potent, Broad-Spectrum State-Dependent Sodium Channel Blocker for Treating Pain States

R. B. Carter, J. Pomonis, D. Hogenkamp, 2006, Journal of Pharmacology and Experimental Therapeutics.

Long-term safety and efficacy of cipaglucosidase alfa plus miglustat in individuals living with Pompe disease: an open-label phase I/II study (ATB200-02).

K. Sivakumar, T. Mozaffar, E. Benjamin, 2023, Journal of neurology.