Gene variants of unknown significance in Fabry disease: Clinical characteristics of <i>c.376A>G (p.Ser126Gly)</i>-Reference-Cited by-同舟云学术

Gene variants of unknown significance in Fabry disease: Clinical characteristics of c.376A>G (p.Ser126Gly)

Published:2022-02-25 Issue:5 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Lau Kolja¹²^ORCID,Üçeyler Nurcan²³,Cairns Tereza¹²,Lorenz Lora¹²,Sommer Claudia²³,Schindehütte Magnus⁴,Amann Kerstin⁵,Wanner Christoph¹²,Nordbeck Peter¹²^ORCID

Affiliation:

1. Department of Internal Medicine I University Hospital Würzburg Würzburg Germany

2. Fabry Center for Interdisciplinary Therapy (FAZiT) University Hospital Würzburg Würzburg Germany

3. Department of Neurology University Hospital Würzburg Würzburg Germany

4. Department of Diagnostic and Interventional Neuroradiology University Hospital Würzburg Würzburg Germany

5. Department of Nephropathology, Department of Pathology University of Erlangen‐Nürnberg Erlangen Germany

Funder

Julius-Maximilians-Universität Würzburg

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1912

Reference24 articles.

1. Natural History of Fabry Renal Disease

2. Belgian Fabry Study

3. Hot topics in Fabry disease

4. Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke

5. Fabry disease

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1. Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease;Journal of Inherited Metabolic Disease;2024-04-15

2. In vitro characterization of cells derived from a patient with the GLA variant c.376A>G (p.S126G) highlights a non-pathogenic role in Fabry disease;Molecular Genetics and Metabolism Reports;2024-03

3. Fabry disease biomarkers in patients switched from enzyme-replacement therapy to migalastat oral chaperone therapy;Bioanalysis;2023-12

4. c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease;Molecular Genetics and Metabolism;2023-11

5. Patient reported quality of life and medication adherence in Fabry disease patients treated with migalastat: A prospective, multicenter study;Molecular Genetics and Metabolism;2023-02