Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone. - Wikidata - awgldk - TriplyDB

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

http://www.wikidata.org/entity/Q37131892

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Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease Functional studies of new GLA gene mutations leading to conformational Fabry disease.Enzyme replacement therapy for Fabry disease: some answers but more questions Identification 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 disease Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Pharmacological chaperone therapy for Fabry disease The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations Rare diseases in Croatia--lesson learned from Anderson-Fabry disease A thermodynamic assay to test pharmacological chaperones for Fabry disease.Fabry disease: a review of current management strategies.Angiokeratoma: decision-making aid for the diagnosis of Fabry disease.Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Taming molecular flexibility to tackle rare diseases.α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.X-chromosome inactivation in female patients with Fabry disease.Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.

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Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

http://www.wikidata.org/entity/Q37131892

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

@tr

scientific article published on September 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

@en

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

@nl

type

label

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

@en

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

@nl

prefLabel

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

@en

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

@nl

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Pharmacogenetics and Genomics

P1476

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone

@en

P2093

Adele M Cooney

http://www.w3.org/2001/XMLSchema#string

Gary J Murray

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Jane M Quirk

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Raphael Schiffmann

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Roscoe O Brady

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Sang H Shin

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Stefanie Kluepfel-Stahl

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P2860

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region

Measurement of protein using bicinchoninic acid

A synthetic chaperone corrects the trafficking defect and disease phenotype in a protein misfolding disorder

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase.

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

Mendelian Inheritance in Man and its online version, OMIM

Long-term correction of globotriaosylceramide storage in Fabry mice by recombinant adeno-associated virus-mediated gene transfer

Structural basis of Fabry disease.

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity.

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773-780

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scholarly article

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10.1097/FPC.0B013E32830500F4

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9

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18

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Christine R. Kaneski

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2008-09-01T00:00:00Z

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18698230

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P921

molecular chaperones

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2657085

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