The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase (Q33870303)

29 July 2017

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase (English)

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29 July 2017

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Richie Khanna

1

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29 July 2017

Elfrida R Benjamin

2

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29 July 2017

Lee Pellegrino

3

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29 July 2017

Adriane Schilling

4

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29 July 2017

Brigitte A Rigat

5

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29 July 2017

Rebecca Soska

6

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29 July 2017

Hadis Nafar

7

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29 July 2017

Brian E Ranes

8

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29 July 2017

Jessie Feng

9

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29 July 2017

Yi Lun

10

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29 July 2017

Allan C Powe

11

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29 July 2017

David J Palling

12

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29 July 2017

Brandon A Wustman

13

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29 July 2017

Raphael Schiffmann

14

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29 July 2017

Don J Mahuran

15

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29 July 2017

David J Lockhart

16

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29 July 2017

Kenneth J Valenzano

17

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29 July 2017

language of work or name

English

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publication date

10 February 2010

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29 July 2017

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29 July 2017

277

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29 July 2017

1618-1638

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29 July 2017

7

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The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Randomized, controlled trial of miglustat in Gaucher's disease type 3.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Chemical and biological approaches synergize to ameliorate protein-folding diseases.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

New therapeutic options for lysosomal storage disorders: enzyme replacement, small molecules and gene therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Alpha-1-C-octyl-1-deoxynojirimycin as a pharmacological chaperone for Gaucher disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

New directions in the treatment of Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Gaucher disease and the clinical experience with substrate reduction therapy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Stemming the tide: glycosphingolipid synthesis inhibitors as therapy for storage diseases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Gaucher disease: gene frequencies and genotype/phenotype correlations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Enzyme therapy for Gaucher disease: the first 5 years.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Identification of six new Gaucher disease mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

A less costly regimen of alglucerase to treat Gaucher's disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2874831

Human Gene Mutation Database (HGMD): 2003 update.

5 July 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

Decreased bone density in splenectomized Gaucher patients receiving enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

Rheological determinants in patients with Gaucher disease and internal inflammation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

Measurement of lysosomal glucocerebrosidase activity in mouse liver using a fluorescence-activated cell sorter assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2010.07588.X

N-octyl-beta-valienamine up-regulates activity of F213I mutant beta-glucosidase in cultured cells: a potential chemical chaperone therapy for Gaucher disease

21 January 2018

1 reference

12 December 2020

Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease

1 reference

12 December 2020

1 reference

12 December 2020

Inhibition of Glycosphingolipid Biosynthesis: Application to Lysosomal Storage Disorders

1 reference

12 December 2020

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

12 December 2020

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

1 reference

12 December 2020

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

1 reference

12 December 2020

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

1 reference

12 December 2020

Bone density changes with enzyme therapy for Gaucher disease

1 reference

12 December 2020

Enzyme enhancement activity of N-octyl-beta-valienamine on beta-glucosidase mutants associated with Gaucher disease

1 reference

12 December 2020

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

12 December 2020

10.1111/J.1742-4658.2010.07588.X

Identifiers

DOI

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29 July 2017

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29 July 2017

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