(Q35763244)

10 August 2017

title

Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease (English)

1 reference

10 August 2017

1 reference

Ying Sun

1

1 reference

10 August 2017

Benjamin Liou

2

1 reference

10 August 2017

You-Hai Xu

3

1 reference

10 August 2017

Brian Quinn

4

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10 August 2017

Wujuan Zhang

5

1 reference

10 August 2017

Rick Hamler

6

1 reference

10 August 2017

Kenneth D R Setchell

7

1 reference

10 August 2017

Gregory A Grabowski

8

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10 August 2017

language of work or name

English

0 references

publication date

13 December 2011

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Journal of Biological Chemistry

10 August 2017

published in

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10 August 2017

volume

287

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10 August 2017

issue

6

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10 August 2017

page(s)

4275-4287

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describes a project that uses

10 August 2017

ImageQuant

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3281716/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Isofagomine in vivo effects in a neuronopathic Gaucher disease mouse.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Comparative therapeutic effects of velaglucerase alfa and imiglucerase in a Gaucher disease mouse model

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Pharmacologic chaperoning as a strategy to treat Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Characterization of human glucosylsphingosine glucosyl hydrolase and comparison with glucosylceramidase

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

The human glucocerebrosidase gene and pseudogene: structure and evolution

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Gaucher disease: molecular heterogeneity and phenotype-genotype correlations

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Successive isolation and separation of the major lipid fractions including gangliosides from single biological samples.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

Infantile Gaucher's disease: electron microscopic and histochemical studies of a cerebral biopsy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3281716

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

12 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.280016

Conditional expression of human acid beta-glucosidase improves the visceral phenotype in a Gaucher disease mouse model.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.280016

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.280016

Turnover and distribution of intravenously administered mannose-terminated human acid beta-glucosidase in murine and human tissues.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.280016

Preclinical efficacy and safety of 1-deoxygalactonojirimycin in mice for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M111.280016

Fate and sorting of acid beta-glucosidase in transgenic mammalian cells

21 January 2018

1 reference

12 December 2020

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients

1 reference

12 December 2020

Intracellular transport of acid alpha-glucosidase in human fibroblasts: evidence for involvement of phosphomannosyl receptor-independent system

1 reference

12 December 2020

Prevalent and rare mutations among Gaucher patients

1 reference

12 December 2020

The glucocerebrosidase D409H mutation in Gaucher disease

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

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

1 reference

12 December 2020

Identifiers

DOI

10.1074/JBC.M111.280016

1 reference

10 August 2017

1 reference

10 August 2017

1 reference