(Q34386725)

1 August 2017

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

1 reference

1 August 2017

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1 reference

6

Jeffery W Kelly

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1 August 2017

4

Chi-Huey Wong

1 reference

1 August 2017

Anu R Sawkar

1

1 reference

1 August 2017

Wei-Chieh Cheng

series ordinal

2

1 reference

1 August 2017

Ernest Beutler

series ordinal

3

1 reference

1 August 2017

William E Balch

series ordinal

5

1 reference

1 August 2017

language of work or name

English

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publication date

14 November 2002

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1 August 2017

6

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

inferred from page(s)

published in

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1 August 2017

99

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1 August 2017

24

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1 August 2017

15428-15433

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Gaucher disease: Perspectives on a prototype lysosomal disease

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

New prospects for the treatment of lysosomal storage diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Pharmacological chaperones: a new twist on receptor folding.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

The molecular basis of lysosomal storage diseases and their treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Gaucher disease. Enzymology, genetics, and treatment

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Gaucher disease mutations in non-Jewish patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Lysosomal storage diseases in adults

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

Mutations in Jewish patients with Gaucher disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137733

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

27 October 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Imino sugar therapy for type 1 Gaucher disease

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.192582899

1 reference

1 August 2017

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1 reference

1 August 2017

1 reference