The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease

Author:

Khanna Richie,Soska Rebecca,Lun Yi,Feng Jessie,Frascella Michelle,Young Brandy,Brignol Nastry,Pellegrino Lee,Sitaraman Sheela A,Desnick Robert J,Benjamin Elfrida R,Lockhart David J,Valenzano Kenneth J

Publisher

Elsevier BV

Subject

Drug Discovery,Pharmacology,Genetics,Molecular Biology,Molecular Medicine

Reference50 articles.

1. Human Gene Mutation Database (HGMD): 2003 update;Stenson;Hum Mutat,2003

2. Fabry disease: an asymptomatic hemizygote with significant residual α-galactosidase A activity;Bishop;Am J Hum Genet,1981

3. Synthesis and processing of alpha-galactosidase A in human fibroblasts. Evidence for different mutations in Fabry disease;Lemansky;J Biol Chem,1987

4. An atypical variant of Fabry's disease with manifestations confined to the myocardium;von Scheidt;N Engl J Med,1991

5. Enzymatic defect in Fabry's disease. Ceramidetrihexosidase deficiency;Brady;N Engl J Med,1967

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