Glucosylceramide Mimics: Highly Potent GCase Inhibitors and Selective Pharmacological Chaperones for Mutations Associated with Types 1 and 2 Gaucher Disease

Recent developments in targeting protein misfolding diseases

(2013) Rajiah Aldrin Denny et al.   BIOORGANIC & MEDICINAL CHEMISTRY LETTERS

Bicyclic Derivatives ofL-Idonojirimycin as Pharmacological Chaperones for Neuronopathic Forms of Gaucher Disease

(2013) Pilar Alfonso et al.   CHEMBIOCHEM

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

(2013) Robert E. Boyd et al.   JOURNAL OF MEDICINAL CHEMISTRY

An improved methodology for the synthesis of 1-C-allyl imino-d-xylitol and -l-arabinitol and their rapid functionalization

(2013) Anna Biela et al.   TETRAHEDRON

Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease

(2012) Ethan D. Goddard-Borger et al.   JOURNAL OF MEDICINAL CHEMISTRY

Small-Molecule Structure Correctors Target Abnormal Protein Structure and Function: Structure Corrector Rescue of Apolipoprotein E4–Associated Neuropathology

(2012) Robert W. Mahley et al.   JOURNAL OF MEDICINAL CHEMISTRY

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

(2012) Pilar Giraldo et al.   Orphanet Journal of Rare Diseases

Synthesis of glycosylamines and glyconamides using molecular iodine

(2012) Maxime B. Fusaro et al.   TETRAHEDRON

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Second-Generation Iminoxylitol-Based Pharmacological Chaperones for the Treatment of Gaucher Disease

(2011) Farah Oulaïdi et al.   ChemMedChem

Pharmacological chaperone therapy for Gaucher disease: a patent review

(2011) Juan M Benito et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

Synthesis of Azide-armed α-1-C-Alkyl-imino-d-xylitol Derivatives as Key Building Blocks for the Preparation of Iminosugar Click Conjugates

(2011) Camille Decroocq et al.   JOURNAL OF CARBOHYDRATE CHEMISTRY

Synthesis of new β-1-C-alkylated imino-l-iditols: A comparative study of their activity as β-glucocerebrosidase inhibitors

(2010) Wojciech Schönemann et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Synthesis and Evaluation of Lipophilic Aza-C-glycosides as Inhibitors of Glucosylceramide Metabolism

(2010) Tom Wennekes et al.   EUROPEAN JOURNAL OF ORGANIC CHEMISTRY

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

(2010) Richie Khanna et al.   FEBS Journal

X-ray and Biochemical Analysis of N370S Mutant Human Acid β-Glucosidase

(2010) Ronnie R. Wei et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Velaglucerase alfa

(2010) Johannes M. F. G. Aerts et al.   NATURE REVIEWS DRUG DISCOVERY

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

(2009) Tom Wennekes et al.   ANGEWANDTE CHEMIE-INTERNATIONAL EDITION

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

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

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Rational Design and Synthesis of Highly Potent Pharmacological Chaperones for Treatment of N370S Mutant Gaucher Disease

(2009) Guan-Nan Wang et al.   JOURNAL OF MEDICINAL CHEMISTRY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

CFTR Function and Prospects for Therapy

(2008) John R. Riordan   Annual Review of Biochemistry

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

(2008) Jin-Song Shen et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset

(2008) W. C. Nichols et al.   NEUROLOGY