(Q36405317)

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

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1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

based on heuristic

inferred from title

Robert J. Desnick

4

object named as

Robert J Desnick

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

author name string

Junaid Shabbeer

1

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Makiko Yasuda

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

Stacy D Benson

3

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Europe PubMed Central

PMC publication ID

14 August 2017

publication date

1 March 2006

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Europe PubMed Central

PMC publication ID

14 August 2017

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

2

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

5

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

297-309

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

Long-term safety and efficacy of enzyme replacement 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=3500179

30 September 2017

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=3500179

30 September 2017

Gene action in the X-chromosome of the mouse (Mus musculus L.)

1 reference

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30 September 2017

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=3500179

30 September 2017

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=3500179

30 September 2017

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

1 reference

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30 September 2017

The 1.9 A structure of alpha-N-acetylgalactosaminidase: molecular basis of glycosidase deficiency diseases

1 reference

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30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

Niemann-Pick C1 is a late endosome-resident protein that transiently associates with lysosomes and the trans-Golgi network

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

Sequence variations in the first exon of alpha-galactosidase A.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

X chromosome inactivation and the diagnosis of X linked disease in females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

The CpG dinucleotide and human genetic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

Human alpha-N-acetylgalactosaminidase-molecular cloning, nucleotide sequence, and expression of a full-length cDNA. Homology with human alpha-galactosidase A suggests evolution from a common ancestral gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

Improved methods for building protein models in electron density maps and the location of errors in these models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

30 September 2017

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=3500179

30 September 2017

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=3500179

21 September 2018

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

21 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

21 September 2018

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3500179

21 October 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of Fabry's disease in Australian patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

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/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

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/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16595074

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1479-7364-2-5-297

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

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0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

14 August 2017

ResearchGate publication ID

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