(Q36951293)

17 August 2017

1 reference

title

Active-site-specific chaperone therapy for Fabry disease. Yin and Yang of enzyme inhibitors (English)

1 reference

17 August 2017

0 references

1 reference

Jian-Qiang Fan

1

1 reference

PubMed ID

17894781

17 August 2017

Satoshi Ishii

series ordinal

2

1 reference

PubMed ID

17894781

17 August 2017

language of work or name

English

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publication date

1 October 2007

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17 August 2017

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17 August 2017

274

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17 August 2017

19

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17 August 2017

4962-4971

1 reference

Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

17 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Fabry disease: enzyme replacement therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Pharmacological chaperone action on G-protein-coupled receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Structural basis of Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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/10.1111%2FJ.1742-4658.2007.06041.X

Quality control in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Roles of N-linked glycans in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Residual activity of alpha-galactosidase A in Fabry's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Screening for pharmacological chaperones in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Ligands act as pharmacological chaperones and increase the efficiency of delta opioid receptor maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1742-4658.2007.06041.X

10.1111/J.1742-4658.2007.06041.X

21 January 2018

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

17894781