Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. - Wikidata - wikimedia - TriplyDB

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

http://www.wikidata.org/entity/Q35007910

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Insights into mucopolysaccharidosis I from the structure and action of α-L-iduronidase New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.Development of Unsymmetrical Dyads As Potent Noncarbohydrate-Based Inhibitors against Human β-N-Acetyl-d-hexosaminidase Immune responses and hypercoagulation in ERT for Pompe disease are mutation and rhGAA dose dependent.Using pharmacological chaperones to restore proteostasis Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.Phenylalanine hydroxylase misfolding and pharmacological chaperones.Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Promoting autophagic clearance: viable therapeutic targets in Alzheimer's disease.Cell-based protein stabilization assays for the detection of interactions between small-molecule inhibitors and BRD4.Disease specific therapies in leukodystrophies and leukoencephalopathies.A GCase chaperone improves motor function in a mouse model of synucleinopathy.Novel Direct Assay for Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Using BODIPY-Glucosamine as a Substrate.Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseases Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.Disease models for the development of therapies for lysosomal storage diseases.Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development.A generalizable pre-clinical research approach for orphan disease therapy Treatment options for lysosomal storage disorders: developing insights.Glucocerebrosidase inhibitors for the treatment of Gaucher disease.Pharmacological chaperones for enzyme enhancement therapy in genetic diseases.Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators.Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.Emerging treatments for pediatric leukodystrophies.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Chaperones as potential therapeutics for Krabbe disease.Small molecules as therapeutic agents for inborn errors of metabolism.Glucosylceramide mimics: highly potent GCase inhibitors and selective pharmacological chaperones for mutations associated with types 1 and 2 Gaucher disease.

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.

http://www.wikidata.org/entity/Q35007910

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2011 nî lūn-bûn

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2011 թուականի Յունիսին հրատարակուած գիտական յօդուած

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Identification and characteriz ...... n lysosomal storage disorders.

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Identification and characteriz ...... n lysosomal storage disorders.

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Identification and characteriz ...... n lysosomal storage disorders.

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Identification and characteriz ...... n lysosomal storage disorders.

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Identification and characteriz ...... n lysosomal storage disorders.

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Allan C Powe

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Elfrida R Benjamin

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Gary Lee

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John J Flanagan

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Kenneth J Valenzano

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Richie Khanna

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P2860

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)

Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

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

Catalytic mechanism of human alpha-galactosidase

In and Out of the ER: Protein Folding, Quality Control, Degradation, and Related Human Diseases

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10.1089/ADT.2011.0370

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molecular chaperones

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