The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
about
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of studyGH97 is a new family of glycoside hydrolases, which is related to the alpha-galactosidase superfamily.The 1.9 a structure of human alpha-N-acetylgalactosaminidase: The molecular basis of Schindler and Kanzaki diseasesCharacterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidaseLarge-scale production of pharmaceutical proteins in plant cell culture-the Protalix experiencePharmacological chaperoning: a primer on mechanism and pharmacologyEffects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and StabilityCatalytic mechanism of human alpha-galactosidaseCrystal Structure of the Catalytic Domain of Drosophila β1,4-Galactosyltransferase-7Interconversion of the Specificities of Human Lysosomal Enzymes Associated with Fabry and Schindler DiseasesStructural Analysis of Saccharomyces cerevisiae -Galactosidase and Its Complexes with Natural Substrates Reveals New Insights into Substrate Specificity of GH27 GlycosidasesThe Molecular Mechanism of Thermostable -Galactosidases AgaA and AgaB Explained by X-ray Crystallography and Mutational Studiesα-Galactosidase/Sucrose Kinase (AgaSK), a Novel Bifunctional Enzyme from the Human Microbiome Coupling Galactosidase and Kinase ActivitiesPharmacological chaperones for human -N-acetylgalactosaminidaseThe Molecular Basis of Pharmacological Chaperoning in Human α-GalactosidaseStructure-specificity relationships in Abp, a GH27 β-L-arabinopyranosidase from Geobacillus stearothermophilus T6A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese familyFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseThe alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Fabry disease and the skin: data from FOS, the Fabry outcome survey.Arrhythmias in Fabry cardiomyopathy.Crystallization and preliminary X-ray diffraction data of alpha-galactosidase from Saccharomyces cerevisiae.Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro.The α-galactosidase type A gene aglA from Aspergillus niger encodes a fully functional α-N-acetylgalactosaminidase.A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case reportHigh incidence of later-onset fabry disease revealed by newborn screeningFunctional studies of new GLA gene mutations leading to conformational Fabry disease.Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.Structure-function relationships in alpha-galactosidase A.Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.De novo mutation in a male patient with Fabry disease: a case report.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 diseasePharmacological chaperone therapy for lysosomal storage diseases.Pharmacological chaperone therapy for Fabry diseaseEvaluation of the efficacy and safety of three dosing regimens of agalsidase alfa enzyme replacement therapy in adults with Fabry disease.Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.Growth of Chitinophaga pinensis on Plant Cell Wall Glycans and Characterisation of a Glycoside Hydrolase Family 27 β-l-Arabinopyranosidase Implicated in Arabinogalactan Utilisation.Crystal Structure and Mutational Analysis of Isomalto-dextranase, a Member of Glycoside Hydrolase Family 27Chemical and structural characterization of α-N-acetylgalactosaminidase I and II from starfish, asterina amurensis.
P2860
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P2860
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
description
2004 nî lūn-bûn
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2004 թուականի Մարտին հրատարակուած գիտական յօդուած
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2004 թվականի մարտին հրատարակված գիտական հոդված
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年学术文章
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2004年學術文章
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name
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@ast
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@en
type
label
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@ast
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@en
prefLabel
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@ast
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@en
P1476
The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.
@en
P2093
David N Garboczi
Scott C Garman
P304
P356
10.1016/J.JMB.2004.01.035
P407
P577
2004-03-01T00:00:00Z