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

A Bicyclic 1-Deoxygalactonojirimycin Derivative as a Novel Pharmacological Chaperone for GM1 Gangliosidosis

(2013) Tomoko Takai et al.   MOLECULAR THERAPY

Enzyme Replacement Therapy for Lysosomal Diseases: Lessons from 20 Years of Experience and Remaining Challenges

(2012) R.J. Desnick et al.   Annual Review of Genomics and Human Genetics

Functional Screening of Pharmacological Chaperones via Restoration of Enzyme Activity upon Denaturation

(2012) Meera Shanmuganathan et al.   BIOCHEMISTRY

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Cyclodextrin-Based Iminosugar Click Clusters: The First Examples of Multivalent Pharmacological Chaperones for the Treatment of Lysosomal Storage Disorders

(2012) Camille Decroocq et al.   CHEMBIOCHEM

Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM1 gangliosidosis

(2012) M. Aguilar-Moncayo et al.   CHEMICAL COMMUNICATIONS

sp2-Iminosugar O-, S-, and N-Glycosides as Conformational Mimics of α-Linked Disaccharides; Implications for Glycosidase Inhibition

(2012) Elena M. Sánchez-Fernández et al.   CHEMISTRY-A EUROPEAN JOURNAL

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

(2012) Gustavo Tiscornia et al.   HUMAN MOLECULAR GENETICS

Gaucher disease paradigm: From ERAD to comorbidity

(2012) Inna Bendikov-Bar et al.   HUMAN MUTATION

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

Conformationally-Locked N-Glycosides with Selective β-Glucosidase Inhibitory Activity: Identification of a New Non-Iminosugar-Type Pharmacological Chaperone for Gaucher Disease

(2012) Javier Castilla et al.   JOURNAL OF MEDICINAL CHEMISTRY

Potent Aminocyclitol Glucocerebrosidase Inhibitors are Subnanomolar Pharmacological Chaperones for Treating Gaucher Disease

(2012) Ana Trapero et al.   JOURNAL OF MEDICINAL CHEMISTRY

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

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

(2012) Gholamreza Babajani et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Binding of 3,4,5,6-Tetrahydroxyazepanes to the Acid-β-glucosidase Active Site: Implications for Pharmacological Chaperone Design for Gaucher Disease

(2011) Susan D. Orwig et al.   BIOCHEMISTRY

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

Neurological manifestations in patients with Gaucher disease and their relatives, it is just a coincidence?

(2011) Pilar Giraldo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Polyhydroxylated Bicyclic Isoureas and Guanidines Are Potent Glucocerebrosidase Inhibitors and Nanomolar Enzyme Activity Enhancers in Gaucher Cells

(2011) Ana Trapero et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Bicyclic (galacto)nojirimycin analogues as glycosidase inhibitors: Effect of structural modifications in their pharmacological chaperone potential towards β-glucocerebrosidase

(2011) Matilde Aguilar-Moncayo et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Cyclodextrin-mediated crystallization of acid β-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues

(2011) Boris Brumshtein et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Synthesis and glycosidase inhibitory activity of isourea-type bicyclic sp2-iminosugars related to galactonojirimycin and allonojirimycin

(2011) Matilde Aguilar-Moncayo et al.   TETRAHEDRON

The myo-1,2-Diaminocyclitol Scaffold Defines Potent Glucocerebrosidase Activators and Promising Pharmacological Chaperones for Gaucher Disease

(2011) Ana Trapero et al.   ACS Medicinal Chemistry Letters

Fluorescent-tagged sp2-iminosugars with potent β-glucosidase inhibitory activity

(2010) Matilde Aguilar-Moncayo et al.   BIOORGANIC & MEDICINAL CHEMISTRY

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

(2010) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

A Fluorescent sp2-Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies

(2010) Zhuo Luan  et al.   CHEMBIOCHEM

Synthesis of N-, S-, and C-glycoside castanospermine analogues with selective neutral α-glucosidase inhibitory activity as antitumour agents

(2010) Elena M. Sánchez-Fernández et al.   CHEMICAL COMMUNICATIONS

Iminosugars past, present and future: medicines for tomorrow

(2010) Graeme Horne et al.   DRUG DISCOVERY TODAY

Pharmacological small molecules for the treatment of lysosomal storage disorders

(2010) BE Smid et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

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

(2010) Richie Khanna et al.   FEBS Journal

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl

(2010) J. Lu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of Potent and Selective Glucosylceramide Synthase Inhibitors from a Library of N-Alkylated Iminosugars

(2010) Amar Ghisaidoobe et al.   ACS Medicinal Chemistry Letters

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

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

Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison withN-(n-nonyl)Deoxynojirimycin

(2009) Zhuo Luan et al.   CHEMBIOCHEM

6-Amino-6-deoxy-5,6-di-N-(N′-octyliminomethylidene)nojirimycin: Synthesis, Biological Evaluation, and Crystal Structure in Complex with Acid β-Glucosidase

(2009) Boris Brumshtein et al.   CHEMBIOCHEM

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

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Dual-Action Lipophilic Iminosugar Improves Glycemic Control in Obese Rodents by Reduction of Visceral Glycosphingolipids and Buffering of Carbohydrate Assimilation

(2009) Tom Wennekes et al.   JOURNAL OF MEDICINAL CHEMISTRY

Synthesis of Thiohydantoin-Castanospermine Glycomimetics as Glycosidase Inhibitors

(2009) Matilde Aguilar-Moncayo et al.   JOURNAL OF ORGANIC CHEMISTRY

Glycosidase inhibition by ring-modified castanospermine analogues: tackling enzyme selectivity by inhibitor tailoring

(2009) Matilde Aguilar-Moncayo et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Generalized Anomeric Effect ingem-Diamines: Stereoselective Synthesis of α-N-Linked Disaccharide Mimics

(2009) Elena M. Sánchez-Fernández et al.   ORGANIC LETTERS

Substrate uptake and protein stability relationship in mammalian histidine decarboxylase

(2009) A. Pino-Ángeles et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Molecular Basis for β-Glucosidase Inhibition by Ring-Modified Calystegine Analogues

(2008) Matilde Aguilar et al.   CHEMBIOCHEM

Synthesis and Biological Evaluation of Guanidine-Type Iminosugars

(2008) Matilde Aguilar et al.   JOURNAL OF ORGANIC CHEMISTRY

Fabry's disease

(2008) Yuri A Zarate et al.   LANCET

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY