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

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

Chaperone-Like Antibodies in Neurodegenerative Tauopathies: Implication for Immunotherapy

(2009) Eva Kontsekova et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

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

Molecular interaction of imino sugars with human α-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease

(2009) Kanako Sugawara et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Caterina Porto et al.   MOLECULAR THERAPY

Glycoengineered Acid α-Glucosidase With Improved Efficacy at Correcting the Metabolic Aberrations and Motor Function Deficits in a Mouse Model of Pompe Disease

(2009) Yunxiang Zhu et al.   MOLECULAR THERAPY

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

(2008) Maria-Veronica Munoz-Rojas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM

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

Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid α-glucosidase (alglucosidase alfa): Insight into the complex formation mechanism

(2008) Michiru Yoshimizu et al.   CLINICA CHIMICA ACTA

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

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

Conformational Changes and Aggregation of Expanded Polyglutamine Proteins as Therapeutic Targets of the Polyglutamine Diseases: Exposed β-Sheet Hypothesis

(2008) Yoshitaka Nagai et al.   CURRENT PHARMACEUTICAL DESIGN

Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis by CNS Administration of a Serotype 2 Adeno-Associated Virus Expressing CLN2 cDNA

(2008) Stefan Worgall et al.   HUMAN GENE THERAPY

Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II

(2008) Gaelle Douillard-Guilloux et al.   HUMAN MOLECULAR GENETICS

In Vivoandin VitroExamination of Stability of Primary Hyperoxaluria-associated Human Alanine:Glyoxylate Aminotransferase

(2008) Erin D. Hopper et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

(2008) Angel L. Pey et al.   JOURNAL OF CLINICAL INVESTIGATION

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

(2008) J. Cox-Brinkman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

(2008) Elena Elliot-Smith et al.   MOLECULAR GENETICS AND METABOLISM

Targeting of the CNS in MPS-IH Using a Nonviral Transferrin-α-l-iduronidase Fusion Gene Product

(2008) Mark J Osborn et al.   MOLECULAR THERAPY

Chemically modified  -glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII

(2008) J. H. Grubb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Chemical and Biological Folding Contribute to Temperature-Sensitive ΔF508 CFTR Trafficking

(2008) Xiaodong Wang et al.   TRAFFIC

Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

(2008) Ting-Wei Mu et al.   PLOS BIOLOGY