Pharmacological chaperone therapy for lysosomal storage diseases

The effectiveness and cost-effectiveness of enzyme and substrate replacement therapies: a longitudinal cohort study of people with lysosomal storage disorders.

(2014) K Wyatt et al.   HEALTH TECHNOLOGY ASSESSMENT

Inhibiting toxic aggregation of amyloidogenic proteins: A therapeutic strategy for protein misfolding diseases

(2013) Biao Cheng et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

New Insights into the Pharmacological Chaperone Activity of C2-Substituted Glucoimidazoles for the Treatment of Gaucher Disease

(2013) Zhonghua Li et al.   CHEMBIOCHEM

On the Design of Broad Based Screening Assays to Identify Potential Pharmacological Chaperones of Protein Misfolding Diseases

(2013) Subhashchandra Naik et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Protein Misfolding in Disease and Small Molecule Therapies

(2013) Claudio M. Gomes   CURRENT TOPICS IN MEDICINAL CHEMISTRY

TFEB regulates lysosomal proteostasis

(2013) Wensi Song et al.   HUMAN MOLECULAR GENETICS

Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases

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

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

(2013) R. Giugliani et al.   MOLECULAR GENETICS AND METABOLISM

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

(2013) Tomoko Takai et al.   MOLECULAR THERAPY

Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase

(2013) Haiying Bie et al.   Nature Chemical Biology

The carbohydrate-active enzymes database (CAZy) in 2013

(2013) Vincent Lombard et al.   NUCLEIC ACIDS RESEARCH

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

(2013) Brandy Young-Gqamana et al.   PLoS One

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

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

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

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Systematic Structure-Activity Study on Potential Chaperone Lead Compounds for Acid α-Glucosidase

(2012) Chiara Bruckmann et al.   ChemMedChem

Treatment options for lysosomal storage disorders: developing insights

(2012) Carin M van Gelder et al.   EXPERT OPINION ON PHARMACOTHERAPY

Gene Therapy Approaches for Lysosomal Storage Disease: Next-Generation Treatment

(2012) Barry J. Byrne et al.   HUMAN GENE THERAPY

α-Galactosidase Aggregation Is a Determinant of Pharmacological Chaperone Efficacy on Fabry Disease Mutants

(2012) Aleksandra Siekierska et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2012) Samarjit Patnaik 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

Discovery of a Novel Noniminosugar Acid α Glucosidase Chaperone Series

(2012) Jingbo Xiao 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

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

(2012) Yadilette Rivera-Colón et al.   JOURNAL OF MOLECULAR BIOLOGY

Therapeutic chaperone effect of N-Octyl 4-Epi-β-valienamine on murine GM1-gangliosidosis

(2012) Yoshiyuki Suzuki et al.   MOLECULAR GENETICS AND METABOLISM

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

(2012) Elfrida R Benjamin et al.   MOLECULAR THERAPY

Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine

(2012) Caterina Porto et al.   MOLECULAR THERAPY

The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

(2012) Richie Khanna et al.   PLoS One

Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII

(2012) H. T. Huynh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Pharmacological chaperones for human  -N-acetylgalactosaminidase

(2012) N. E. Clark et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

(2011) Abigail I. Guce et al.   CHEMISTRY & BIOLOGY

Enzyme replacement therapy for lysosomal storage diseases

(2011) Robin H. Lachmann   CURRENT OPINION IN PEDIATRICS

Ex Vivoandin VivoEffects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

(2011) Ying Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inhibition of Endoplasmic Reticulum-associated Degradation Rescues Native Folding in Loss of Function Protein Misfolding Diseases

(2011) Fan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Crystal Structure of Human β-Galactosidase

(2011) Umeharu Ohto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease

(2011) Caterina Porto et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The cellular pathology of lysosomal diseases

(2011) Timothy M Cox et al.   JOURNAL OF PATHOLOGY

Reversal of Lysosomal Storage in Brain of Adult MPS-I Mice with Intravenous Trojan Horse-Iduronidase Fusion Protein

(2011) Ruben J. Boado et al.   MOLECULAR PHARMACEUTICS

Chemical and Pharmacological Chaperones: Application for Recombinant Protein Production and Protein Folding Diseases

(2010) Rahul S. Rajan et al.   CURRENT MEDICINAL CHEMISTRY

Chemical and/or biological therapeutic strategies to ameliorate protein misfolding diseases

(2010) Derrick Sek Tong Ong et al.   CURRENT OPINION IN CELL BIOLOGY

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

(2010) Richie Khanna et al.   FEBS Journal

Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I

(2010) Mariusz Walus et al.   HUMAN MUTATION

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

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

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

(2010) W. C. Lee et al.   JOURNAL OF NEUROSCIENCE

Current International Perspectives on Hematopoietic Stem Cell Transplantation for Inherited Metabolic Disorders

(2010) Jaap J. Boelens et al.   PEDIATRIC CLINICS OF NORTH AMERICA

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

A new resorufin-based α-glucosidase assay for high-throughput screening

(2009) Omid Motabar et al.   ANALYTICAL BIOCHEMISTRY

Biological and Chemical Approaches to Diseases of Proteostasis Deficiency

(2009) Evan T. Powers et al.   Annual Review of Biochemistry

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

The pharmacological chaperone effect of N-octyl-β-valienamine on human mutant acid β-glucosidases

(2009) Zhuo Luan et al.   BLOOD CELLS MOLECULES AND DISEASES

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

(2009) John J. Flanagan et al.   HUMAN MUTATION

Catalytic Mechanism of Human α-Galactosidase

(2009) Abigail I. Guce et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Detection of ligand binding hot spots on protein surfaces via fragment-based methods: application to DJ-1 and glucocerebrosidase

(2009) Melissa R. Landon et al.   JOURNAL OF COMPUTER-AIDED MOLECULAR DESIGN

Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease

(2009) Kanako Sugawara et al.   JOURNAL OF HUMAN GENETICS

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

The 1.9 Å Structure of Human α-N-Acetylgalactosaminidase: The Molecular Basis of Schindler and Kanzaki Diseases

(2009) Nathaniel E. Clark et al.   JOURNAL OF MOLECULAR BIOLOGY

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

(2009) Caterina Porto et al.   MOLECULAR THERAPY

The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

(2009) Richie Khanna et al.   MOLECULAR THERAPY

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

(2009) Matthew Feldhammer et al.   PLoS One

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

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

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

(2008) Michael B. Tropak et al.   CHEMBIOCHEM

Optimization and Validation of Two Miniaturized Glucocerebrosidase Enzyme Assays for High Throughput Screening

(2008) Daniel Urban et al.   COMBINATORIAL CHEMISTRY & HIGH THROUGHPUT SCREENING

Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB

(2008) E. Ficko-Blean et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE