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Jan Lukas

Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data

Universität Rostock, 2014

Abstract: Fabry disease is a condition caused by mutations within a single gene (GLA) encoding lysosomal enzyme alpha-galactosidase A. Several hundred distinct mutations have been identified to cause the onset of disease. Due to the X-linked inheritance pattern, a reliable genotype/phenotype correlation especially for female patients is difficult to obtain. In the present study, 171 mutations were characterised with regard to activity, stability and the capacity of being recovered by pharmacological chaperone treatment utilising an in vitro overexpression and enzyme activity measurement system.

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