Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

[1]  Yoshiyuki Suzuki,et al.  The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice , 2013, Brain and Development.

[2]  Yoshiyuki Suzuki,et al.  Conformationally-locked N-glycosides with selective β-glucosidase inhibitory activity: identification of a new non-iminosugar-type pharmacological chaperone for Gaucher disease. , 2012, Journal of medicinal chemistry.

[3]  A. Kermode,et al.  Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: evidence that N370S is a folding mutant. , 2012, Molecular genetics and metabolism.

[4]  Noel Southall,et al.  Discovery, structure-activity relationship, and biological evaluation of noninhibitory small molecule chaperones of glucocerebrosidase. , 2012, Journal of medicinal chemistry.

[5]  T. Butters,et al.  Potent aminocyclitol glucocerebrosidase inhibitors are subnanomolar pharmacological chaperones for treating gaucher disease. , 2012, Journal of medicinal chemistry.

[6]  A. Pisani,et al.  Synergy between the pharmacological chaperone 1-deoxygalactonojirimycin and the human recombinant alpha-galactosidase A in cultured fibroblasts from patients with Fabry disease , 2012, Journal of Inherited Metabolic Disease.

[7]  S. Withers,et al.  Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease. , 2012, Journal of medicinal chemistry.

[8]  T. Butters,et al.  Synthesis of N-substituted ε-hexonolactams as pharmacological chaperones for the treatment of N370S mutant Gaucher disease. , 2012, Organic & biomolecular chemistry.

[9]  Noel Southall,et al.  High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase , 2012, PloS one.

[10]  D. Lockhart,et al.  Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice , 2012, Molecular therapy : the journal of the American Society of Gene Therapy.

[11]  Ying Sun,et al.  Ex Vivo and in Vivo Effects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease* , 2011, The Journal of Biological Chemistry.

[12]  J. Kelly,et al.  Binding of 3,4,5,6-tetrahydroxyazepanes to the acid-β-glucosidase active site: implications for pharmacological chaperone design for Gaucher disease. , 2011, Biochemistry.

[13]  A. Zimran.  How I treat Gaucher disease. , 2011, Blood.

[14]  J. M. Benito,et al.  Pharmacological chaperone therapy for Gaucher disease: a patent review , 2011, Expert opinion on therapeutic patents.

[15]  E. Lesellier,et al.  Second‐Generation Iminoxylitol‐Based Pharmacological Chaperones for the Treatment of Gaucher Disease , 2011, ChemMedChem.

[16]  M. Horowitz,et al.  Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant. , 2011, Blood cells, molecules & diseases.

[17]  Yoshiyuki Suzuki,et al.  A Fluorescent sp2‐Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies , 2010, Chembiochem : a European journal of chemical biology.

[18]  Yoshitomo Hamuro,et al.  Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease* , 2009, The Journal of Biological Chemistry.

[19]  D. Mahuran,et al.  Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. , 2009, Molecular genetics and metabolism.

[20]  E. Brown,et al.  Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β‐Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry , 2008, Chembiochem : a European journal of chemical biology.

[21]  P. Compain,et al.  Metal-free one-pot oxidative amidation of aldoses with functionalized amines. , 2008, The Journal of organic chemistry.

[22]  G. Grabowski.  Phenotype, diagnosis, and treatment of Gaucher's disease , 2008, The Lancet.

[23]  F. Platt,et al.  Substrate reduction therapy , 2008, Acta paediatrica.

[24]  M. Horowitz,et al.  Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients. , 2008, Molecular genetics and metabolism.

[25]  M. Horowitz,et al.  ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. , 2007, Human molecular genetics.

[26]  D. Urban,et al.  N4-phenyl modifications of N2-(2-hydroxyl)ethyl-6-(pyrrolidin-1-yl)-1,3,5-triazine-2,4-diamines enhance glucocerebrosidase inhibition by small molecules with potential as chemical chaperones for Gaucher disease. , 2007, Bioorganic & medicinal chemistry letters.

[27]  Christopher P Austin,et al.  Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease , 2007, Proceedings of the National Academy of Sciences.

[28]  Chi‐Huey Wong,et al.  Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention. , 2007, Journal of medicinal chemistry.

[29]  Gregory A Petsko,et al.  Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease. , 2006, Nature chemical biology.

[30]  S. Chung,et al.  The iminosugar isofagomine increases the activity of N370S mutant acid β-glucosidase in Gaucher fibroblasts by several mechanisms , 2006, Proceedings of the National Academy of Sciences.

[31]  S. Ishii,et al.  Hydrophilic iminosugar active‐site‐specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients , 2006, The FEBS journal.

[32]  M. Horowitz,et al.  ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity , 2005 .

[33]  E. Beutler,et al.  Enzyme Replacement in Gaucher Disease , 2004, PLoS medicine.

[34]  Ernest Beutler,et al.  Chemical chaperones increase the cellular activity of N370S β-glucosidase: A therapeutic strategy for Gaucher disease , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[35]  R. Kopito.  ER Quality Control: The Cytoplasmic Connection , 1997, Cell.

[36]  R. Brady,et al.  The role of neurogenetics in Gaucher disease. , 1993, Archives of neurology.

[37]  M. M. Bradford.  A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. , 1976, Analytical biochemistry.

[38]  Noel Southall,et al.  Non-iminosugar glucocerebrosidase small molecule chaperones. , 2012, MedChemComm.

[39]  J. Bonifacino,et al.  Ubiquitin and the control of protein fate in the secretory and endocytic pathways. , 1998, Annual review of cell and developmental biology.

[40]  E. Beutler.  2 Gaucher Disease11This is manuscript 8587-MEM from The Scripps Research Institute. Supported by National Institutes of Health Grants DK36639 and RR00833 and the Sam Stein and Rose Stein Charitable Trust Fund. , 1995 .

[41]  R. Van Tiggelen,et al.  Gaucher disease , 2019, Haematology.