Dysregulated DNA methylation in the pathogenesis of Fabry disease

Dysregulated DNA methylation in the pathogenesis of Fabry disease

Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and subsequent accumulation of glycosphingolipids with terminal α-D-galactosyl residues. The molecular process through which this abnormal metabolism of glycosphingolipids causes multisystem dysfuncti...

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Bibliographic Details
Main Authors: Jin-Song Shen, Uthra Balaji, Kunitoshi Shigeyasu, Yoshinaga Okugawa, Siamak Jabbarzadeh-Tabrizi, Taniqua S. Day, Erland Arning, John Marshall, Seng H. Cheng, Jinghua Gu, Raphael Schiffmann, Teodoro Bottiglieri, Ajay Goel
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Fabry disease
α-Galactosidase A
Globotriaosylceramide
DNA methylation
Deoxygalactonojirimycin
Substrate reduction therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000799

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http://www.sciencedirect.com/science/article/pii/S2214426922000799

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