Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Item
http://www.wikidata.org/entity/Q43131767
Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry DiseaseImproving binding specificity of pharmacological chaperones that target mutant superoxide dismutase-1 linked to familial amyotrophic lateral sclerosis using computational methodsEnzyme replacement therapy for Fabry disease: some answers but more questionsIdentification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.Pharmacological 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 MutationsUsing CRISPR/Cas9-Mediated GLA Gene Knockout as an In Vitro Drug Screening Model for Fabry Disease.Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.Taming molecular flexibility to tackle rare diseases.Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
P2860

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Item
http://www.wikidata.org/entity/Q43131767
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh-hant
name
Effects of a chemical chaperon ...... n patients with Fabry disease.
@en
Effects of a chemical chaperon ...... n patients with Fabry disease.
@nl
type
label
Effects of a chemical chaperon ...... n patients with Fabry disease.
@en
Effects of a chemical chaperon ...... n patients with Fabry disease.
@nl
prefLabel
Effects of a chemical chaperon ...... n patients with Fabry disease.
@en
Effects of a chemical chaperon ...... n patients with Fabry disease.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698
P921
P932
P356
P1433
P1476
Effects of a chemical chaperon ...... n patients with Fabry disease.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P5875
P6179
P698
P921
P932