Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene. (Q35763202)

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23 February 2020

title

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene (English)

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23 February 2020

2

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23 February 2020

author name string

Javier Gervas-Arruga

1

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23 February 2020

Pilar Irun

3

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23 February 2020

Javier Perez-Lopez

4

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23 February 2020

Luis Plaza

5

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23 February 2020

Jose C Roche

6

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23 February 2020

Jose L Capablo

7

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23 February 2020

Jose C Rodriguez-Rey

8

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23 February 2020

Miguel Pocovi

9

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23 February 2020

Pilar Giraldo

10

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23 February 2020

publication date

3 September 2015

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23 February 2020

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23 February 2020

volume

16

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23 February 2020

page(s)

109

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The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type Specific

23 February 2020

cites work

1 reference

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A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

2 October 2017

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Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease

2 October 2017

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2 October 2017

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Enhanced endothelial delivery and biochemical effects of α-galactosidase by ICAM-1-targeted nanocarriers for Fabry disease

2 October 2017

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Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936 919G>A (IVS4 919G>A).

2 October 2017

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An easy and sensitive method for determination of globotriaosylceramide (Gb3) from urinary sediment: utility for Fabry disease diagnosis and treatment monitoring

2 October 2017

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The function of Dmrt genes in vertebrate development: it is not just about sex.

2 October 2017

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Fabry disease: guidelines for the evaluation and management of multi-organ system involvement

2 October 2017

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High incidence of later-onset fabry disease revealed by newborn screening

2 October 2017

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Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease

2 October 2017

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Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey

2 October 2017

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

2 October 2017

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The X-box binding protein-1 transcription factor is required for plasma cell differentiation and the unfolded protein response

2 October 2017

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

2 October 2017

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Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype

2 October 2017

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DNA methylation in health and disease

2 October 2017

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The SNAP45 subunit of the small nuclear RNA (snRNA) activating protein complex is required for RNA polymerase II and III snRNA gene transcription and interacts with the TATA box binding protein

2 October 2017

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MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

2 October 2017

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

2 October 2017

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Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.

2 October 2017

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A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

27 July 2018

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Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

25 September 2018

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Frequency of Fabry disease in patients with small-fibre neuropathy of unknown aetiology: a pilot study

25 September 2018

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Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

25 September 2018

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Cellular and tissue localization of globotriaosylceramide in Fabry disease.

25 September 2018

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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 September 2018

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Galactose oxidase action on galactose containing glycolipids--a fluorescence method

25 September 2018

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Immunoelectron-microscopic detection of globotriaosylceramide accumulated in the skin of patients with Fabry disease

25 September 2018

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25 September 2018

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Quantitative sensory testing in the German Research Network on Neuropathic Pain (DFNS): Standardized protocol and reference values

25 September 2018

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Crossref

https://api.crossref.org/works/10.1186/S12863-015-0267-Z

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

21 January 2018

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12 December 2020

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

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12 December 2020

Fabry disease in patients with end-stage renal failure: the potential benefits of screening

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12 December 2020

Association of ACACB polymorphisms with obesity and diabetes

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12 December 2020

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

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12 December 2020

Mutant α-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level

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12 December 2020

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

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12 December 2020

The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study

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12 December 2020

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

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12 December 2020

Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

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12 December 2020

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Identifiers

DOI

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Dimensions Publication ID

23 February 2020

0 references

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23 February 2020

PubMed publication ID

26334996

1 reference

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