Publikation: Dissertationsschrift

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

Grunddaten
Abstract
Autoren
Einrichtung

Grunddaten

Titel	Characterisation of novel -galactosidase A mutations in Fabry disease based on in vitro, in vivo and pharmacological data
Erscheinungsjahr	2013
Publikationsform	Elektronische Ressource
Publikationsart	Dissertationsschrift
Sprache	Englisch
Letzte Änderung	28.03.2022 06:02:06
Bearbeitungsstatus	durch UB Rostock abschließend validiert
Dauerhafte URL	http://purl.uni-rostock.de/fodb/pub/45607
Links zu Katalogen

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.

Autor

Lukas, Jan

Einrichtung

MNF/Institut für Biowissenschaften (IfBI)