(Q37312295)

19 August 2017

Screening for pharmacological chaperones in Fabry disease (English)

1 reference

19 August 2017

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1 reference

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Sang-Hoon Shin

1

1 reference

19 August 2017

Gary J Murray

2

1 reference

19 August 2017

Stefanie Kluepfel-Stahl

3

1 reference

19 August 2017

Adele M Cooney

4

1 reference

19 August 2017

Jane M Quirk

5

1 reference

19 August 2017

Raphael Schiffmann

6

1 reference

19 August 2017

Roscoe O Brady

7

1 reference

19 August 2017

Christine R Kaneski

8

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19 August 2017

language of work or name

English

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publication date

22 May 2007

1 reference

Biochemical and Biophysical Research Communications

19 August 2017

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19 August 2017

359

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19 August 2017

1

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19 August 2017

168-173

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Enzyme replacement for lysosomal diseases

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Storage solutions: treating lysosomal disorders of the brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Human T-lymphocyte growth factor: regulation of growth and function of T lymphocytes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Purification and properties of the two major isozymes of alpha-galactosidase from human placenta

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Neuropathological and biochemical studies in Fabry's disease.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

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

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

12 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2729584

Enzymatic Defect in Fabry's Disease

12 August 2018

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

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

12 December 2020

Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.

1 reference

12 December 2020

10.1016/J.BBRC.2007.05.082

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

1 reference