The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of studyAn open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants)Pharmacological chaperoning: a primer on mechanism and pharmacologyThe delicate balance between secreted protein folding and endoplasmic reticulum-associated degradation in human physiologyPharmacological chaperones for human -N-acetylgalactosaminidaseFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseOral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused AgalsidaseIdentification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry DiseaseSmall-molecule structure correctors target abnormal protein structure and function: structure corrector rescue of apolipoprotein E4-associated neuropathologyThe validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatThe pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds.Insights into Hunter syndrome from the structure of iduronate-2-sulfataseThe pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase.Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.Multi-system disorders of glycosphingolipid and ganglioside metabolismSmall molecule structure correctors abolish detrimental effects of apolipoprotein E4 in cultured neurons.Iminosugars as therapeutic agents: recent advances and promising trends.Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.Functional studies of new GLA gene mutations leading to conformational Fabry disease.Enzyme replacement therapy for Fabry disease: some answers but more questionsIdentification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseasePharmacological chaperone therapy for lysosomal storage diseases.Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Azasugar inhibitors as pharmacological chaperones for Krabbe diseasePharmacological chaperone therapy for Fabry diseaseThe Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsCoformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry MicePharmacokinetics, safety, and tolerability following single-dose migalastat hydrochloride (GR181413A/AT1001) in healthy male Japanese subjectsPharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.A thermodynamic assay to test pharmacological chaperones for Fabry disease.Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics.Emerging drugs for lysosomal storage diseases.Pharmacological small molecules for the treatment of lysosomal storage disorders.Pharmacological chaperone therapy for Gaucher disease: a patent review.Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.Pharmacological chaperones for enzyme enhancement therapy in genetic diseases.
P2860
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P2860
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
description
2009 nî lūn-bûn
@nan
2009 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
The pharmacological chaperone ...... s in Fabry patient cell lines.
@ast
The pharmacological chaperone ...... s in Fabry patient cell lines.
@en
The pharmacological chaperone ...... s in Fabry patient cell lines.
@nl
type
label
The pharmacological chaperone ...... s in Fabry patient cell lines.
@ast
The pharmacological chaperone ...... s in Fabry patient cell lines.
@en
The pharmacological chaperone ...... s in Fabry patient cell lines.
@nl
prefLabel
The pharmacological chaperone ...... s in Fabry patient cell lines.
@ast
The pharmacological chaperone ...... s in Fabry patient cell lines.
@en
The pharmacological chaperone ...... s in Fabry patient cell lines.
@nl
P2093
P2860
P921
P1476
The pharmacological chaperone ...... s in Fabry patient cell lines.
@en
P2093
A Schilling
D J Lockhart
E R Benjamin
J J Flanagan
K J Valenzano
P2860
P2888
P304
P356
10.1007/S10545-009-1077-0
P577
2009-04-18T00:00:00Z
P6179
1019319609