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 pharmacological chaperone, was c...

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Bibliographic Details
Published in:	International journal of molecular sciences Vol. 21; no. 3; p. 956
Main Authors:	Lukas, Jan, Cimmaruta, Chiara, Liguori, Ludovica, Pantoom, Supansa, Iwanov, Katharina, Petters, Janine, Hund, Christina, Bunschkowski, Maik, Hermann, Andreas, Cubellis, Maria Vittoria, Rolfs, Arndt
Format:	Journal Article
Language:	English
Published:	Switzerland MDPI AG 31-01-2020 MDPI
Subjects:	1-Deoxynojirimycin - analogs & derivatives 1-Deoxynojirimycin - therapeutic use Agreements alpha-Galactosidase - genetics alpha-Galactosidase - metabolism Amino Acid Substitution Assaying Biochemistry Biological Assay Cell culture Classification Criteria Enzymatic activity Enzyme activity Enzymes Fabry Disease - drug therapy Fabry Disease - genetics Fabry Disease - metabolism Fabry's disease Galactosidase Genetic diversity Glycosphingolipids Health services HEK293 Cells Humans Intravenous administration Lysosomal storage diseases lysosomal storage disorders method comparison study Mutation Patients personalized medicine pharmacological chaperones Pharmacology Precision Medicine Reproducibility Reproducibility of Results Retrospective Studies pharmacological chaperones Lysosomal storage disorders method comparison study personalized medicine
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