Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.
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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of studyClarifying lysosomal storage diseasesNew insights into therapeutic options for Pompe diseasePharmacological chaperoning: a primer on mechanism and pharmacologyCyclodextrin-mediated crystallization of acid β-glucosidase in complex with amphiphilic bicyclic nojirimycin analoguesInsights into Krabbe disease from structures of galactocerebrosidasePharmacological chaperones for human -N-acetylgalactosaminidaseThe Molecular Basis of Pharmacological Chaperoning in Human α-GalactosidaseStructural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperonesA rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cellsIdentification of Small Molecule Compounds for Pharmacological Chaperone Therapy of AspartylglucosaminuriaDelivery and tracking of quantum dot peptide bioconjugates in an intact developing avian brainA Review of Gaucher Disease Pathophysiology, Clinical Presentation and TreatmentsInsights into Hunter syndrome from the structure of iduronate-2-sulfataseThe development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases.A high throughput glucocerebrosidase assay using the natural substrate glucosylceramideRapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher diseaseProgress and problems in muscle glycogenosesGaucher disease and its treatment options.Gaucher disease: clinical profile and therapeutic developments.Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.Phenylalanine hydroxylase misfolding and pharmacological chaperones.Enzyme replacement therapy for Fabry disease: some answers but more questionsThe multivalent effect in glycosidase inhibition: probing the influence of valency, peripheral ligand structure, and topology with cyclodextrin-based iminosugar click clusters.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Protein localization as a principal feature of the etiology and comorbidity of genetic diseasesAzasugar inhibitors as pharmacological chaperones for Krabbe diseaseSmall-molecule proteostasis regulators for protein conformational diseases.Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease.Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).Expanding rare disease drug trials based on shared molecular etiologyCorrection of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice.Nanoparticle targeting to neurons in a rat hippocampal slice culture model.Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy SeverityMutations in ARSB in MPS VI patients in India.Induced pluripotent stem cell technology for disease modeling and drug screening with emphasis on lysosomal storage diseasesβ-Glucosidase 2 (GBA2) activity and imino sugar pharmacology.Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria.Emerging drugs for lysosomal storage diseases.
P2860
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P2860
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on August 2009
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vedecký článok
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vetenskaplig artikel
@sv
videnskabelig artikel
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vědecký článek
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name
Treating lysosomal storage dis ...... ones: from concept to clinics.
@en
Treating lysosomal storage dis ...... ones: from concept to clinics.
@nl
type
label
Treating lysosomal storage dis ...... ones: from concept to clinics.
@en
Treating lysosomal storage dis ...... ones: from concept to clinics.
@nl
prefLabel
Treating lysosomal storage dis ...... ones: from concept to clinics.
@en
Treating lysosomal storage dis ...... ones: from concept to clinics.
@nl
P2860
P921
P356
P1476
Treating lysosomal storage dis ...... ones: from concept to clinics.
@en
P2093
Giancarlo Parenti
P2860
P304
P356
10.1002/EMMM.200900036
P577
2009-08-01T00:00:00Z