Pharmacological chaperone therapy for Gaucher disease: a patent review

Therapeutic targets for Gaucher´s disease

(2015) L.A. Sorbera et al.   DRUGS OF THE FUTURE

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

(2010) A. Zimran et al.   BLOOD

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

(2010) Zhuo Luan  et al.   CHEMBIOCHEM

The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders

(2010) Arash Velayati et al.   Current Neurology and Neuroscience Reports

Cystic Fibrosis Transmembrane Conductance Regulator Modulators for Personalized Drug Treatment of Cystic Fibrosis

(2010) Frédéric Becq   DRUGS

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

The risk of Parkinson’s disease in type 1 Gaucher disease

(2010) Gilberto Bultron et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

(2010) Martin D Witte et al.   Nature Chemical Biology

Glycosphingolipids-Nature, Function, and Pharmacological Modulation

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

Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

(2009) Gessamí Sánchez-Ollé et al.   BLOOD CELLS MOLECULES AND DISEASES

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

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

(2009) Zhuo Luan et al.   CHEMBIOCHEM

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

(2009) Giancarlo Parenti   EMBO Molecular Medicine

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

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

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

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

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

(2009) Caterina Porto et al.   MOLECULAR THERAPY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

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

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

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

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

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

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

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

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

Synthesis and Biological Evaluation of Guanidine-Type Iminosugars

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

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

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

(2008) Xiaodong Wang et al.   TRAFFIC

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

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY