(Q35207863)

7 August 2017

title

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

1 reference

7 August 2017

0 references

1 reference

Xiaoyang Wu

1

1 reference

7 August 2017

Evan Katz

2

1 reference

7 August 2017

Maria Cecilia Della Valle

3

1 reference

7 August 2017

Kirsten Mascioli

4

1 reference

7 August 2017

John J Flanagan

5

1 reference

7 August 2017

Jeffrey P Castelli

6

1 reference

7 August 2017

Raphael Schiffmann

7

1 reference

7 August 2017

Pol Boudes

8

1 reference

7 August 2017

David J Lockhart

9

1 reference

7 August 2017

Kenneth J Valenzano

10

1 reference

7 August 2017

Elfrida R Benjamin

11

1 reference

7 August 2017

publication date

12 July 2011

1 reference

7 August 2017

1 reference

7 August 2017

volume

32

1 reference

7 August 2017

issue

8

1 reference

7 August 2017

page(s)

965-977

1 reference

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Screening for pharmacological chaperones in Fabry disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Structure-function relationships in alpha-galactosidase A.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

High incidence of later-onset fabry disease revealed by newborn screening

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Efficient and rapid purification of recombinant human alpha-galactosidase A by affinity column chromatography

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Pharmacological chaperones: potential treatment for conformational diseases.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Enzyme replacement and enhancement therapies for lysosomal diseases

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Structural basis of Fabry disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Diagnostic tests 2: Predictive values

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Diagnostic tests. 1: Sensitivity and specificity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3170878

Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course

13 July 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

Non-invasive high-risk screening for Fabry disease hemizygotes and heterozygotes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21530

Fabry disease in patients with end-stage renal failure: the potential benefits of screening

21 January 2018

1 reference

12 December 2020

Analysis of splice-site mutations of the alpha-galactosidase A gene in Fabry disease

1 reference

12 December 2020

Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

1 reference

12 December 2020

Partial enzyme deficiencies: residual activities and the development of neurological disorders

1 reference

12 December 2020

An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy

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

Identifiers

DOI

10.1002/HUMU.21530

1 reference

7 August 2017

1 reference

7 August 2017

1 reference