Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease

Fabry disease is one of the most common lysosomal storage disorders caused by mutations in the gene encoding lysosomal α-galactosidase A (α-Gal A) and resultant accumulation of glycosphingolipids. The sugar mimetic 1-deoxygalactonojirimycin (DGJ), an orally available pharmacologica...

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Bibliographic Details
Main Authors: Jan Lukas, Chiara Cimmaruta, Ludovica Liguori, Supansa Pantoom, Katharina Iwanov, Janine Petters, Christina Hund, Maik Bunschkowski, Andreas Hermann, Maria Vittoria Cubellis, Arndt Rolfs
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:International Journal of Molecular Sciences
Subjects:
lysosomal storage disorders
pharmacological chaperones
method comparison study
personalized medicine
Online Access:https://www.mdpi.com/1422-0067/21/3/956

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https://www.mdpi.com/1422-0067/21/3/956

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