(Q42137809)

English

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

scientific article published on September 2007

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scholarly article

1 reference

Europe PubMed Central

17 October 2017

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 (English)

1 reference

Europe PubMed Central

17 October 2017

1 reference

based on heuristic

inferred from title

author name string

Satoshi Ishii

1

1 reference

Europe PubMed Central

17 October 2017

Hui-Hwa Chang

2

1 reference

Europe PubMed Central

17 October 2017

Kunito Kawasaki

3

1 reference

Europe PubMed Central

17 October 2017

Kayo Yasuda

4

1 reference

Europe PubMed Central

17 October 2017

Hui-Li Wu

5

1 reference

Europe PubMed Central

17 October 2017

Scott C Garman

6

1 reference

Europe PubMed Central

17 October 2017

Jian-Qiang Fan

7

1 reference

Europe PubMed Central

17 October 2017

language of work or name

0 references

publication date

1 September 2007

1 reference

Europe PubMed Central

17 October 2017

Biochemical Journal

1 reference

Europe PubMed Central

17 October 2017

406

1 reference

Europe PubMed Central

17 October 2017

2

1 reference

Europe PubMed Central

17 October 2017

285-295

1 reference

Europe PubMed Central

17 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Roles of N-linked glycans in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Therapeutic approaches to protein-misfolding diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Quality control in the endoplasmic reticulum protein factory

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Quality control in the endoplasmic reticulum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Structural basis of Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Natural history and treatment of renal involvement in Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Rapid degradation of a large fraction of newly synthesized proteins by proteasomes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Defective protein folding as a basis of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Rapid and efficient site-specific mutagenesis without phenotypic selection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

Efficient selection for high-expression transfectants with a novel eukaryotic vector

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

29 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

17 August 2018

Identification of a novel de novo mutation (G373D) in the alpha-galactosidase A gene (GLA) in a patient affected with Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

17 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

17 August 2018

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

17 August 2018

Differential effects of brefeldin A on transport of secretory and lysosomal proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1948963

3 November 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzymatic Defect in Fabry's Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and Properties of Human α-Galactosidases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel missense mutation (M72V) of alpha-galactosidase gene and its expression product in an atypical Fabry hemizygote

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Folding of Secretory and Membrane Proteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An atypical variant of Fabry's disease in men with left ventricular hypertrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17555407

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1042/BJ20070479

1 reference

Europe PubMed Central

17 October 2017

1 reference

Europe PubMed Central

17 October 2017

1 reference

Europe PubMed Central

17 October 2017

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