Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease (Q43131767)

14 November 2017

Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease (English)

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14 November 2017

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Jung Young Park

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14 November 2017

Gu Hwan Kim

2

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14 November 2017

Sung Su Kim

3

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14 November 2017

Jung Min Ko

4

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14 November 2017

Jin Joo Lee

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14 November 2017

Han Wook Yoo

6

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14 November 2017

1 January 2009

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Experimental and Molecular Medicine

14 November 2017

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14 November 2017

41

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1-7

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14 November 2017

1

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https://scigraph.springernature.com/pub.10.3858/emm.2009.41.1.001

14 November 2017

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Screening for pharmacological chaperones in Fabry disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Roles of N-linked glycans in the endoplasmic reticulum

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Quality control in the endoplasmic reticulum protein factory

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Structural basis of Fabry disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Fabry's disease: a multidisciplinary disorder

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Nucleotide sequence of the human alpha-galactosidase A gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

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

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2679280

Site-directed mutagenesis: a two-step method using PCR and DpnI

15 August 2018

1 reference

12 December 2020

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

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12 December 2020

Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma

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12 December 2020

Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes. Alpha-galactosidase activities in plasma, serum, urine, and leukocytes

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12 December 2020

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

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12 December 2020

10.3858/EMM.2009.41.1.001

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DOI

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14 November 2017

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14 November 2017

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