Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
about
Emerging novel concept of chaperone therapies for protein misfolding diseasesIdentification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry DiseaseThe development and use of small molecule inhibitors of glycosphingolipid metabolism for lysosomal storage diseases.Traffic jam: a compendium of human diseases that affect intracellular transport processes.Chaperone therapy for neuronopathic lysosomal diseases: competitive inhibitors as chemical chaperones for enhancement of mutant enzyme activitiesHigh incidence of later-onset fabry disease revealed by newborn screeningFunctional studies of new GLA gene mutations leading to conformational Fabry disease.Structure-function relationships in alpha-galactosidase A.Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking.Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders.Chemical chaperones--a new concept in drug research.The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense MutationsAmbroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.Chemical and pharmacological chaperones as new therapeutic agents.Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.Glucocerebrosidase inhibitors for the treatment of Gaucher disease.Pharmacological chaperones for enzyme enhancement therapy in genetic diseases.Recent advances and novel treatments for sphingolipidoses.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.Chaperones as potential therapeutics for Krabbe disease.Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.Role of the p.E66Q variant of GLA in the progression of chronic kidney disease.Pharmacoperones as Novel Therapeutics for Diverse Protein Conformational Diseases.X-chromosome inactivation in female patients with Fabry disease.Stabilising normal and mis-sense variant alpha-glucosidase.Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.Fabry disease
P2860
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P2860
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
description
1995 nî lūn-bûn
@nan
1995年の論文
@ja
1995年学术文章
@wuu
1995年学术文章
@zh-cn
1995年学术文章
@zh-hans
1995年学术文章
@zh-my
1995年学术文章
@zh-sg
1995年學術文章
@yue
1995年學術文章
@zh
1995年學術文章
@zh-hant
name
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
@en
type
label
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
@en
prefLabel
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
@en
P2093
P356
P1476
Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.
@en
P2093
Sakuraba H
Takenaka T
P304
P356
10.1006/BBRC.1995.2416
P577
1995-09-01T00:00:00Z