Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
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Inhibition of endoplasmic reticulum-associated degradation rescues native folding in loss of function protein misfolding diseasesPharmacoperones: a new therapeutic approach for diseases caused by misfolded G protein-coupled receptorsEffects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and StabilityPharmacological chaperones for human -N-acetylgalactosaminidaseFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseIdentification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry DiseaseCase study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosisSafety 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.Fabry disease - current treatment and new drug development.Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.Functional studies of new GLA gene mutations leading to conformational Fabry disease.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Carboxyl-terminal truncations alter the activity of the human α-galactosidase AA pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry diseaseTherapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Pharmacological chaperone therapy for Fabry diseaseIncreased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsActive-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity.Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.Mutations in G protein-coupled receptors that impact receptor trafficking and reproductive function.Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.Using CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.A thermodynamic assay to test pharmacological chaperones for Fabry disease.Fabry disease: a review of current management strategies.Fabry's disease: an example of cardiorenal syndrome type 5.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.Screening Fabry's disease in chronic kidney disease patients not on dialysis: a multicenter study.Taming molecular flexibility to tackle rare diseases.Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Ligand-promoted protein folding by biased kinetic partitioning.Enzyme enhancers for the treatment of Fabry and Pompe disease.Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.Loss of cytochrome P450 17A1 protein expression in a 17alpha-hydroxylase/17,20-lyase-deficient 46,XY female caused by two novel mutations in the CYP17A1 gene.Clinical-Pathological Conference Series from the Medical University of Graz : Case No 153: A 55-year-old woman with atypical multiple sclerosis and irritable bowel syndrome.
P2860
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P2860
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
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
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@en
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@nl
type
label
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@en
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@nl
prefLabel
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@en
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@nl
P2093
P2860
P356
P1433
P1476
Mutant alpha-galactosidase A e ...... by 1-deoxygalactonojirimycin.
@en
P2093
Hui-Hwa Chang
Jian-Qiang Fan
Kayo Yasuda
Kunito Kawasaki
Satoshi Ishii
Scott C Garman
P2860
P304
P356
10.1042/BJ20070479
P407
P577
2007-09-01T00:00:00Z