High-throughput screening for human lysosomal beta-N-Acetyl hexosaminidase inhibitors acting as pharmacological chaperones.

[1]  S. Withers,et al.  Crystallographic structure of human beta-hexosaminidase A: interpretation of Tay-Sachs mutations and loss of GM2 ganglioside hydrolysis. , 2006, Journal of molecular biology.

[2]  Chi‐Huey Wong,et al.  Novel Five‐Membered Iminocyclitol Derivatives as Selective and Potent Glycosidase Inhibitors: New Structures for Antivirals and Osteoarthritis , 2006, Chembiochem : a European journal of chemical biology.

[3]  P. Deen,et al.  Rescue of vasopressin V2 receptor mutants by chemical chaperones: specificity and mechanism. , 2005, Molecular biology of the cell.

[4]  Klaus-Peter Zimmer,et al.  Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles. , 2005, Chemistry & biology.

[5]  A. Ciechanover.  Intracellular protein degradation: from a vague idea, through the lysosome and the ubiquitin-proteasome system, and onto human diseases and drug targeting (Nobel lecture). , 2005, Angewandte Chemie.

[6]  Matthew S Macauley,et al.  O-GlcNAcase Uses Substrate-assisted Catalysis , 2005, Journal of Biological Chemistry.

[7]  D. Remick,et al.  Mechanisms of Dimethyl Sulfoxide Augmentation of IL-1β Production 1 , 2005, The Journal of Immunology.

[8]  J. Roth,et al.  A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder , 2005, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[9]  D. Bichet,et al.  Pharmacological chaperone action on G-protein-coupled receptors. , 2004, Current opinion in pharmacology.

[10]  Eric D. Brown,et al.  High-Throughput Screening Identifies Inhibitors of the SARS Coronavirus Main Proteinase , 2004, Chemistry & Biology.

[11]  S. Brothers,et al.  Pharmacologic Rescue of Conformationally‐Defective Proteins: Implications for the Treatment of Human Disease , 2004, Traffic.

[12]  Chi‐Huey Wong,et al.  Synthesis and high-throughput screening of N-acetyl-beta-hexosaminidase inhibitor libraries targeting osteoarthritis. , 2004, The Journal of organic chemistry.

[13]  Michel Bouvier,et al.  Pharmacological chaperones: potential treatment for conformational diseases , 2004, Trends in Endocrinology & Metabolism.

[14]  S. Withers,et al.  Pharmacological Enhancement of β-Hexosaminidase Activity in Fibroblasts from Adult Tay-Sachs and Sandhoff Patients* , 2004, Journal of Biological Chemistry.

[15]  C. Wermuth.  Selective optimization of side activities: another way for drug discovery. , 2004, Journal of medicinal chemistry.

[16]  Seiichiro Ogawa,et al.  Chemical chaperone therapy for brain pathology in GM1-gangliosidosis , 2003, Proceedings of the National Academy of Sciences of the United States of America.

[17]  Eric D. Brown,et al.  High throughput screening identifies novel inhibitors of Escherichia coli dihydrofolate reductase that are competitive with dihydrofolate. , 2003, Bioorganic & medicinal chemistry letters.

[18]  Jian‐Qiang Fan.  A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. , 2003, Trends in pharmacological sciences.

[19]  Timm Maier,et al.  The X-ray crystal structure of human beta-hexosaminidase B provides new insights into Sandhoff disease. , 2003, Journal of molecular biology.

[20]  M. James,et al.  Crystal structure of human beta-hexosaminidase B: understanding the molecular basis of Sandhoff and Tay-Sachs disease. , 2003, Journal of molecular biology.

[21]  M. Piccart,et al.  An EORTC-ECSG phase I study of LU 79553 administered every 21 or 42 days in patients with solid tumours. , 2003, European journal of cancer.

[22]  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.

[23]  D. Scudiero,et al.  Application of high-throughput, molecular-targeted screening to anticancer drug discovery. , 2002, Current topics in medicinal chemistry.

[24]  A. Fersht,et al.  A peptide that binds and stabilizes p53 core domain: Chaperone strategy for rescue of oncogenic mutants , 2002, Proceedings of the National Academy of Sciences of the United States of America.

[25]  A. Ramos,et al.  Naphthalimides as Anticancer Agents: Synthesis and Biological Activity , 2001 .

[26]  S. Withers,et al.  Crystallographic Evidence for Substrate-assisted Catalysis in a Bacterial β-Hexosaminidase* , 2001, The Journal of Biological Chemistry.

[27]  C. Scriver,et al.  The Metabolic and Molecular Bases of Inherited Disease, 8th Edition 2001 , 2001, Journal of Inherited Metabolic Disease.

[28]  D. V. Von Hoff,et al.  Phase I and pharmacokinetic study of LU79553, a DNA intercalating bisnaphthalimide, in patients with solid malignancies. , 2001, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[29]  S. Ishii,et al.  In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. , 2000, European journal of biochemistry.

[30]  M. Mayersohn,et al.  Evaluation of a minimal experimental design for determination of enzyme kinetic parameters and inhibition mechanism. , 2000, The Journal of pharmacology and experimental therapeutics.

[31]  Thomas D. Y. Chung,et al.  A Simple Statistical Parameter for Use in Evaluation and Validation of High Throughput Screening Assays , 1999, Journal of biomolecular screening.

[32]  K. Mills,et al.  Application of magnetic chromatography to the isolation of lysosomes from fibroblasts of patients with lysosomal storage disorders , 1998, FEBS letters.

[33]  D. Mahuran,et al.  A Pro504 → Ser Substitution in the β-Subunit of β-Hexosaminidase A Inhibits α-Subunit Hydrolysis of GM2Ganglioside, Resulting in Chronic Sandhoff Disease* , 1998, The Journal of Biological Chemistry.

[34]  B Henrissat,et al.  Structural and sequence-based classification of glycoside hydrolases. , 1997, Current opinion in structural biology.

[35]  S. Withers,et al.  NAG-thiazoline, An N-Acetyl-β-hexosaminidase Inhibitor That Implicates Acetamido Participation , 1996 .

[36]  R. Vincentelli,et al.  N-Acetylglucosaminidase (chitobiase) from Serratia marcescens: gene sequence, and protein production and purification in Escherichia coli. , 1996, Gene.

[37]  D. Mahuran,et al.  Direct determination of the substrate specificity of the alpha-active site in heterodimeric beta-hexosaminidase A. , 1996, Biochemistry.

[38]  Zbigniew Dauter,et al.  Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay–Sachs disease , 1996, Nature Structural Biology.

[39]  J. Castellano,et al.  Bis-naphthalimides: a new class of antitumor agents. , 1993, Anti-cancer drug design.

[40]  D. Mahuran,et al.  beta-Hexosaminidase isozymes from cells cotransfected with alpha and beta cDNA constructs: analysis of the alpha-subunit missense mutation associated with the adult form of Tay-Sachs disease. , 1993, American journal of human genetics.

[41]  T. Burnakis,et al.  Aldose Reductase Inhibitors: An Update , 1993, The Annals of pharmacotherapy.

[42]  D. Mahuran,et al.  The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis. , 1991, Biochimica et biophysica acta.

[43]  D. Mahuran,et al.  Translation initiation in the HEXB gene encoding the beta-subunit of human beta-hexosaminidase. , 1990, The Journal of biological chemistry.

[44]  G. Legler,et al.  Synthesis and Inhibitory Properties of 2-Acetamido-2-Deoxynojirimycin (2-Acetamido-5-amino-2,5-dideoxy- D -glucopyranose, 1) and 2-Acetamido-1,2-dideoxynojirimycin (2-Acetamido-1,5-imino-1,2,5-trideoxy- D -Glucitol, 2) , 1989 .

[45]  J. Bayleran,et al.  Tay-Sachs disease with hexosaminidase A: characterization of the defective enzyme in two patients. , 1987, American journal of human genetics.

[46]  R. Massarelli,et al.  Enzymes of Lipid Metabolism II , 1986, NATO ASI Series.

[47]  D. Hutcheon,et al.  A Decade of Developments in Diuretic Drug Therapy , 1986, Journal of clinical pharmacology.

[48]  R. Proia,et al.  Faulty association of alpha- and beta-subunits in some forms of beta-hexosaminidase A deficiency. , 1984, The Journal of biological chemistry.

[49]  A. Hasilik,et al.  Biosynthesis of lysosomal enzymes in fibroblasts. Synthesis as precursors of higher molecular weight. , 1980, The Journal of biological chemistry.

[50]  A. Hasilik,et al.  Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues. , 1980, The Journal of biological chemistry.

[51]  V. A. Kul'shin,et al.  A continuous fluorimetric assay for glycosidase activity: human N-acetyl-beta-D-hexosaminidase. , 1980, Analytical biochemistry.

[52]  J. Callahan,et al.  G M1 -gangliosidosis (Type II): studies on a fibroblast cell strain. , 1970, Biochemical medicine.

[53]  G. Charria-Ortiz.  The GM2 Gangliosidoses , 2007 .

[54]  Kai Du,et al.  The ΔF508 cystic fibrosis mutation impairs domain-domain interactions and arrests post-translational folding of CFTR , 2005, Nature Structural &Molecular Biology.

[55]  D. Remick,et al.  Mechanisms of dimethyl sulfoxide augmentation of IL-1 beta production. , 2005, Journal of immunology.

[56]  A. Vasella,et al.  Glycosidase mechanisms. , 2002, Current opinion in chemical biology.

[57]  Kuldeep,et al.  Translation Initiation in the HEXB Gene Encoding the & Subunit of Human , & Hexosaminidase , 2001 .

[58]  Elizabeth F. Neufelds,et al.  Faulty Association of CY-and @-Subunits in Some Forms of @-Hexosaminidase A Deficiency , 2001 .

[59]  M. Braña,et al.  Naphthalimides as anti-cancer agents: synthesis and biological activity. , 2001, Current medicinal chemistry. Anti-cancer agents.

[60]  Satoshi Ishii,et al.  Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor , 1999, Nature Medicine.

[61]  K. Sandhoff,et al.  Biochemical basis of late-onset neurolipidoses. , 1991, Developmental neuroscience.

[62]  H. Willard,et al.  Molecular Heterogeneity in O-Variant GM2 Gangliosidosis , 1986 .