Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

(2011) Xiaoyang Wu et al.   HUMAN MUTATION

Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars

(2011) Takahiro Tsukimura et al.   MOLECULAR GENETICS AND METABOLISM

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease

(2009) Jung-Young Park et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Preclinical Efficacy and Safety of 1-Deoxygalactonojirimycin in Mice for Fabry Disease

(2008) S. Ishii et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone

(2008) Sang H. Shin et al.   Pharmacogenetics and Genomics