Screening for pharmacological chaperones in Fabry disease - Wikidata - awgldk - TriplyDB

Screening for pharmacological chaperones in Fabry disease

Screening for pharmacological chaperones in Fabry disease

http://www.wikidata.org/entity/Q37312295

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The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease.High throughput screening for inhibitors of alpha-galactosidase.Fabry disease - current treatment and new drug development.Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients.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 A A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease Pharmacological chaperone therapy for Fabry disease Endoplasmic Reticulum Stress and Unfolded Protein Response Pathways: Potential for Treating Age-related Retinal Degeneration The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations Unfolding the Therapeutic Potential of Chemical Chaperones for Age-related Macular Degeneration Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors.Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.Synthesis and characterization of a new fluorogenic substrate for alpha-galactosidase.Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease.Protein Trafficking Diseases

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Screening for pharmacological chaperones in Fabry disease

http://www.wikidata.org/entity/Q37312295

description

article científic

@ca

article scientifique

@fr

articolo scientifico

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artigo científico

@pt

bilimsel makale

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scientific article published on 22 May 2007

@en

vedecký článok

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vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

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name

Screening for pharmacological chaperones in Fabry disease

@en

Screening for pharmacological chaperones in Fabry disease.

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type

label

Screening for pharmacological chaperones in Fabry disease

@en

Screening for pharmacological chaperones in Fabry disease.

@nl

prefLabel

Screening for pharmacological chaperones in Fabry disease

@en

Screening for pharmacological chaperones in Fabry disease.

@nl

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J.BBRC.2007.05.082

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Biochemical and Biophysical Research Communications

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Screening for pharmacological chaperones in Fabry disease

@en

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Adele M Cooney

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

Christine R Kaneski

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

Gary J Murray

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

Jane M Quirk

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Raphael Schiffmann

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Roscoe O Brady

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Sang-Hoon Shin

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Stefanie Kluepfel-Stahl

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P2860

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

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease.

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.

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

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

Storage solutions: treating lysosomal disorders of the brain.

Enzyme replacement for lysosomal diseases.

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement.

Purification and properties of the two major isozymes of alpha-galactosidase from human placenta.

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168-173

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scholarly article

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10.1016/J.BBRC.2007.05.082

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1

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359

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2007-05-22T00:00:00Z

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6304053

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17532296

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molecular chaperones

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2729584

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