Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease (Q34386725)

1 August 2017

title

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

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1 August 2017

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Jeffery W Kelly

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1 August 2017

Chi-Huey Wong

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1 August 2017

Anu R Sawkar

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1 August 2017

Wei-Chieh Cheng

series ordinal

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1 August 2017

Ernest Beutler

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1 August 2017

William E Balch

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1 August 2017

language of work or name

English

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publication date

14 November 2002

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Proceedings of the National Academy of Sciences of the United States of America

1 August 2017

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inferred from page(s)

published in

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

15428-15433

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Gaucher disease: Perspectives on a prototype lysosomal disease

1 August 2017

cites work

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New prospects for the treatment of lysosomal storage diseases

6 July 2018

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Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation

6 July 2018

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Is genotype determination useful in predicting the clinical phenotype in lysosomal storage diseases?

6 July 2018

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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

6 July 2018

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Pharmacological chaperones: a new twist on receptor folding.

6 July 2018

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The molecular basis of lysosomal storage diseases and their treatment

6 July 2018

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Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis

6 July 2018

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Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants

6 July 2018

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Failure of alglucerase infused into Gaucher disease patients to localize in marrow macrophages.

6 July 2018

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Gaucher disease: gene frequencies in the Ashkenazi Jewish population

6 July 2018

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6 July 2018

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Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

6 July 2018

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Gaucher disease mutations in non-Jewish patients

6 July 2018

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Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

6 July 2018

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Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease

6 July 2018

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Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease

6 July 2018

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Mutations in Jewish patients with Gaucher disease

6 July 2018

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Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

6 July 2018

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Human acid beta-glucosidase. N-glycosylation site occupancy and the effect of glycosylation on enzymatic activity.

27 October 2018

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Quantitative analysis of the targeting of mannose-terminal glucocerebrosidase. Predominant uptake by liver endothelial cells

27 October 2018

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12 December 2020

Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase

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12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

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12 December 2020

In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

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12 December 2020

Imino sugar therapy for type 1 Gaucher disease

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12 December 2020

Identifiers

DOI

10.1073/PNAS.192582899

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1 August 2017

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1 August 2017

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