(Q34731206)

4 August 2017

title

Structure-function relationships in alpha-galactosidase A. (English)

1 reference

4 August 2017

Scott C Garman

1

1 reference

4 August 2017

language of work or name

English

0 references

publication date

1 April 2007

1 reference

4 August 2017

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4 August 2017

volume

96

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4 August 2017

issue

455

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4 August 2017

page(s)

6-16

1 reference

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

4 August 2017

cites work

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

7 July 2018

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7 July 2018

Pediatric Fabry disease

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A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease

7 July 2018

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

7 July 2018

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Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers

7 July 2018

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Enzyme replacement therapy: conception, chaos and culmination

7 July 2018

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A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease

7 July 2018

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Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes

7 July 2018

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

7 July 2018

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Glycoside hydrolases and glycosyltransferases: families and functional modules

7 July 2018

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Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

7 July 2018

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Fabry disease: data from four families

7 July 2018

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Fabry disease: preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice

7 July 2018

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Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

7 July 2018

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7 July 2018

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Crystallography & NMR System: A New Software Suite for Macromolecular Structure Determination

7 July 2018

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

7 July 2018

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Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene

7 July 2018

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

7 July 2018

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Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene

7 July 2018

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

7 July 2018

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

7 July 2018

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

7 July 2018

1 reference

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Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Identification of Fabry disease in two brothers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser

7 July 2018

1 reference

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

7 July 2018

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

7 July 2018

1 reference

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Novel GLA gene mutations in two Chinese families with classic Fabry disease

7 July 2018

1 reference

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Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Two novel mutations in the alpha-galactosidase A gene in Chinese patients with Fabry disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Clinical features and genetic analysis of a Chinese kindred with Fabry's disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Identification of fifteen novel mutations and genotype-phenotype relationship in Fabry disease.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Screening and detection of gene mutations in Japanese patients with Fabry disease by non-radioactive single-stranded conformation polymorphism analysis.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3065945

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

26 October 2018

1 reference

12 December 2020

Five novel mutations in fourteen patients with Fabry Disease

1 reference

12 December 2020

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

12 December 2020

Identification of four novel mutations in five unrelated Korean families with Fabry disease

1 reference

12 December 2020

Fabry disease: 20 novel GLA mutations in 35 families

1 reference

12 December 2020

Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes

1 reference

12 December 2020

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

1 reference

12 December 2020

A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations

1 reference

12 December 2020

Clinical features of Fabry's disease in Australian patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female

1 reference

12 December 2020

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

12 December 2020

Results of a nationwide screening for Anderson-Fabry disease among dialysis patients

1 reference

12 December 2020

Remarkable variability in renal disease in a large Slovenian family with Fabry disease

1 reference

12 December 2020

Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy

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12 December 2020

Enzymatic Defect in Fabry's Disease

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12 December 2020

Mutation analysis in patients with the typical form of Anderson-Fabry disease

1 reference

12 December 2020

Detection of 8 new mutations in the alpha-galactosidase A gene in Fabry disease

1 reference

12 December 2020

A nonsense mutation (R220X) in the alpha-galactosidase A gene detected in a female carrier of Fabry disease

1 reference

12 December 2020

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

12 December 2020

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

1 reference

12 December 2020

Novel trinucleotide deletion in Fabry's disease.

1 reference

12 December 2020

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

1 reference

12 December 2020

The human gene mutation database

1 reference

12 December 2020

A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis in 11 French patients with Fabry disease

1 reference

12 December 2020

Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online

1 reference

12 December 2020

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation

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

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

1 reference

12 December 2020

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

1 reference

12 December 2020

A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of

1 reference

12 December 2020

Fluorescence-assisted mismatch analysis (FAMA) for exhaustive screening of the alpha-galactosidase A gene and detection of carriers in Fabry disease

1 reference

12 December 2020

10.1111/J.1651-2227.2007.00198.X

Identifiers

DOI

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4 August 2017

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4 August 2017

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