Varaico: Literature-Extracted Genetic Variants

Gene:GLA
Variant:p.D170A
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GLA

NM_000169.3:p.D170A

Associated Papers

Maturation of Lysosomal α-Galactosidase A and Implications for Fabry Disease.

Aral E et al.

Nephron, 2025

Human Saposin B Ligand Binding and Presentation to α-Galactosidase A.

Sawyer TK et al.

Biorxiv : the Preprint Server for Biology, 2024

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models.

Besada P et al.

Biomolecules, 2021

The molecular basis of pharmacological chaperoning in human α-galactosidase.

Guce AI et al.

Chemistry & Biology, 2011

Interconversion of the specificities of human lysosomal enzymes associated with Fabry and Schindler diseases.

Tomasic IB et al.

The Journal of Biological Chemistry, 2010

Catalytic mechanism of human alpha-galactosidase.

Guce AI et al.

The Journal of Biological Chemistry, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."