The mutation D313Y may be associated with nervous system manifestations in Fabry disease-Reference-Cited by-同舟云学术

The mutation D313Y may be associated with nervous system manifestations in Fabry disease

Published:2020-05 Issue: Volume:412 Page:116757
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Zompola Christina,Palaiodimou Lina,Kokotis Panagiotis,Papadopoulou Marianna^ORCID,Theodorou Aikaterini,Sabanis Nikolaos,Theodoroula Efterpi,Papathanasiou Matilda,Tsivgoulis Georgios,Chroni Elisabeth^ORCID

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference7 articles.

1. Fabry’s disease: alfa-galactosidase deficiency;Kint;Science,1970

2. Nature and frequency of mutations in the alpha-galactosidase a gene that cause Fabry disease;Eng;Am. J. Hum. Genet.,1993

3. Fabry disease: D313Y is an alpha-galactosidase a sequence variant that causes pseudodeficient activity in plasma;Froissart;Mol. Genet. Metab.,2003

4. Lyso-Gb3 indicates that the alpha-Galactosidase a mutation D313Y is not clinically relevant for Fabry disease;Niemann;JIMD Rep.,2013

5. Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease;Lukas;PLoS Genet.,2013

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1. 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

2. Author Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis;Neurology;2023-05-30

3. Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report;European Heart Journal - Case Reports;2023-04-30

4. Pharmacological Chaperones and Protein Conformational Diseases: Approaches of Computational Structural Biology;International Journal of Molecular Sciences;2023-03-18

5. How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years;Neurological Sciences;2022-12-02