Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
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Targeted approaches to induce immune tolerance for Pompe disease therapyEffects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and StabilityPartial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasisA rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cellsThe pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe diseaseSmall-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathologyGaucher disease: unmet treatment needs.High throughput screening for inhibitors of alpha-galactosidase.Chaperoning G protein-coupled receptors: from cell biology to therapeuticsEvaluation of 2-thioxo-2,3,5,6,7,8-hexahydropyrimido[4,5-d]pyrimidin-4(1H)-one analogues as GAA activators.The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease.Discovery of a novel noniminosugar acid α glucosidase chaperone series.Fabry disease - current treatment and new drug development.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe DiseasePharmacological chaperone therapy for lysosomal storage diseases.A chaperone enhances blood α-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy.Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapyTranscription factor EB (TFEB) is a new therapeutic target for Pompe diseaseA counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.Therapeutic approaches in glycogen storage disease type II/Pompe Disease.A new resorufin-based alpha-glucosidase assay for high-throughput screening.Lysosomal storage disorders in the newborn.Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.Pharmacological chaperones for enzyme enhancement therapy in genetic diseases.Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders.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.The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblastsPharmacological enhancement of α-glucosidase by the allosteric chaperone N-acetylcysteine.Enzyme enhancers for the treatment of Fabry and Pompe disease.Treatment of Human Fibroblasts Carrying NPC1 Missense Mutations with MG132 Leads to an Improvement of Intracellular Cholesterol Trafficking.Synthesis and evaluation of eight- and four-membered iminosugar analogues as inhibitors of testicular ceramide-specific glucosyltransferase, testicular β-glucosidase 2, and other glycosidases.TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle.Drug repositioning can accelerate discovery of pharmacological chaperones.Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.S2.2 Enzyme replacement therapyin the infantile-onset Pompe disease.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.
P2860
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P2860
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
Pharmacological enhancement of ...... m patients with Pompe disease.
@en
type
label
Pharmacological enhancement of ...... m patients with Pompe disease.
@en
prefLabel
Pharmacological enhancement of ...... m patients with Pompe disease.
@en
P2093
P356
P1433
P1476
Pharmacological enhancement of ...... m patients with Pompe disease.
@en
P2093
Alfredo Zuppaldi
Alice Donati
Barbara Rossi
Bruno Bembi
Caterina Porto
Francesca Donaudy
Generoso Andria
Germana Meroni
Giancarlo Parenti
Ida Annunziata
P304
P356
10.1038/SJ.MT.6300074
P577
2007-01-09T00:00:00Z