Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease (Q28748170)

8

object named as

Robert J Desnick

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author name string

Karen M Ashe

2

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Dinesh Bangari

3

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KerryAnne McEachern

4

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Wei-Lien Chuang

5

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Joshua Pacheco

6

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Diane P Copeland

7

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James A Shayman

9

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Ronald K Scheule

10

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Seng H Cheng

Creative Commons Attribution 4.0 International

11

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language of work or name

English

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publication date

24 November 2010

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published in

PLOS One

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volume

5

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issue

11

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page(s)

e15033

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copyright license

start time

24 November 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Treatment of Fabry disease: outcome of a comparative trial with agalsidase alfa or beta at a dose of 0.2 mg/kg

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Clinical results of enzyme replacement therapy in Fabry disease: a comprehensive review of literature

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

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

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

RAG-1-deficient mice have no mature B and T lymphocytes

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

16 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

3 June 2018

1 reference

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Treating lysosomal storage disorders: current practice and future prospects

3 June 2018

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Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Correction of the biochemical and functional deficits in fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A.

3 June 2018

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Fabry disease and vascular risk factors: future strategies for patient-based studies and the knockout murine model

3 June 2018

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An open-label, noncomparative study of miglustat in type I Gaucher disease: efficacy and tolerability over 24 months of treatment

3 June 2018

1 reference

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Renal involvement in Anderson-Fabry disease.

3 June 2018

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Pathophysiology and assessment of neuropathic pain in Fabry disease.

3 June 2018

1 reference

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

3 June 2018

1 reference

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Involvement of dorsal root ganglia in Fabry's disease.

3 June 2018

1 reference

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Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting

3 June 2018

1 reference

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Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

An in vitro model of Fabry disease

21 January 2018

1 reference

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Miglustat (Zavesca) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme.

21 January 2018

1 reference

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Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

Small fiber dysfunction predominates in Fabry neuropathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

Functional and structural nerve fiber findings in heterozygote patients with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

Cardiac microvascular pathology in Fabry disease: evaluation of endomyocardial biopsies before and after enzyme replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

Caveolin-associated accumulation of globotriaosylceramide in the vascular endothelium of alpha-galactosidase A null mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0015033

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.0015033

Clinical manifestations and natural history of Japanese heterozygous females with Fabry disease.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2991350

Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment

27 November 2018

1 reference

12 December 2020

A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease

1 reference

12 December 2020

Physiological characterization of neuropathy in Fabry's disease

1 reference

12 December 2020

Agalsidase-beta therapy for advanced Fabry disease: a randomized trial

1 reference

12 December 2020

Psychological aspects of patients with Fabry disease

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0015033

Identifiers

DOI

1 reference

1863342

ADS bibcode

2010PLoSO...515033M

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1863342

1 reference

1 reference

1 reference