(Q34614418)

3 August 2017

title

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients (English)

1 reference

3 August 2017

Dominique P Germain

8

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Derralynn A Hughes

object named as

Derralynn A Hughes

10

0 references

Kathy Nicholls

object named as

Kathy Nicholls

12

0 references

Roberto Giugliani

9

object named as

Roberto Giugliani

1 reference

3 August 2017

Brandy Young-Gqamana

1

1 reference

3 August 2017

Nastry Brignol

2

1 reference

3 August 2017

Hui-Hwa Chang

3

1 reference

3 August 2017

Richie Khanna

4

1 reference

3 August 2017

Rebecca Soska

5

1 reference

3 August 2017

Maria Fuller

6

1 reference

3 August 2017

Sheela A Sitaraman

7

1 reference

3 August 2017

Atul Mehta

11

1 reference

3 August 2017

Pol Boudes

13

1 reference

3 August 2017

David J Lockhart

14

1 reference

3 August 2017

Kenneth J Valenzano

15

1 reference

3 August 2017

Elfrida R Benjamin

16

1 reference

3 August 2017

language of work or name

English

0 references

publication date

5 March 2013

1 reference

3 August 2017

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3 August 2017

volume

8

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3 August 2017

issue

3

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3 August 2017

page(s)

e57631

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Creative Commons Attribution 4.0 International

3 August 2017

copyright license

start time

5 March 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

1 reference

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Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Co-administration with the pharmacological chaperone AT1001 increases recombinant human α-galactosidase A tissue uptake and improves substrate reduction in Fabry mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders

7 July 2018

1 reference

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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease

7 July 2018

1 reference

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Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies

7 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Pharmacological chaperone therapy by active-site-specific chaperones in Fabry disease: in vitro and preclinical studies

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Agalsidase alfa and kidney dysfunction in Fabry disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Early therapeutic intervention in females with Fabry disease?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Screening for pharmacological chaperones in Fabry disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

The role of ceramide trihexoside (globotriaosylceramide) in the diagnosis and follow-up of the efficacy of treatment of Fabry disease: a review of the literature

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Is globotriaosylceramide a useful biomarker in Fabry disease?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

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

7 July 2018

1 reference

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Long-term safety and efficacy of enzyme replacement therapy for Fabry disease

7 July 2018

1 reference

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Long-term enzyme correction and lipid reduction in multiple organs of primary and secondary transplanted Fabry mice receiving transduced bone marrow cells

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Aging accentuates and bone marrow transplantation ameliorates metabolic defects in Fabry disease mice

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

alpha-Galactosidase A deficient mice: a model of Fabry disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Verotoxin receptor glycolipid in human renal tissue.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Lipid composition of lysosomal multilamellar bodies of male mouse urine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3589404

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

7 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Plasma globotriaosylsphingosine as a biomarker of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Tissue and plasma globotriaosylsphingosine could be a biomarker for assessing enzyme replacement therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Quantification of the Fabry marker lysoGb3 in human plasma by tandem mass spectrometry.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

LC-MS/MS analysis of plasma lyso-Gb3 in Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Testosterone-responsive mouse kidney glycosphingolipids: developmental and inbred strain effects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Long-term inhibition of glycosphingolipid accumulation in Fabry model mice by a single systemic injection of AAV1 vector in the neonatal period

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0057631

Cell-Based Screening of Active-Site Specific Chaperone for the Treatment of Fabry Disease

21 January 2018

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

Testosterone effects on the induction and urinary excretion of mouse kidney glycosphingolipids associated with lysosomes

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

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID

1 reference

12 December 2020

Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy

1 reference

12 December 2020

Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics

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

10.1371/JOURNAL.PONE.0057631

Identifiers

DOI

1 reference

3 August 2017

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3 August 2017

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