Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data Lukas, Jan , 1980- Text theses Text Hochschulschrift 2013 2013 eng electronic resourceremoteComputermedienOnline-Ressourcetext/htmlapplication/pdfOnline-Ressource graph. Darst. 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. vorgelegt von Jan Lukas Rostock, Univ., Mathematisch-Naturwiss. Fak., Diss., 2014 610 44.77 http://rosdok.uni-rostock.de/resolve?urn=urn:nbn:de:gbv:28-diss2014-0107-1 http://rosdok.uni-rostock.de/resolve?urn=urn:nbn:de:gbv:28-diss2014-0107-1&pdf http://nbn-resolving.de/urn:nbn:de:gbv:28-diss2014-0107-1 Characterisation of novel α-galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data--(DE-627)786589809 urn:nbn:de:gbv:28-diss2014-0107-1 oclc: 935562920 ppn: (DE-627)79316088X