Articles tagged with α-galactosidase A
Fabry disease is a lysosomal storage disorder which will typically lead to the accumulation of the sphingolipid globotriaosylceramide (Gb3) in numerous organs of the body. The patients may presents with isolated symptoms (e.g. only pain or cerebrovascular disorders) or with multiple symptoms which…
Fabry disease is an X-linked inherited lysosomal storage disease characterized by a deficient alpha-galactosidase caused by mutations in GLA gene. We present here the data collected over a period of over10 years regarding in vitro Fabry diagnosis.
This study demonstrated fluorescent probes for selective protein labeling in lysosomes in a case of α-galactosidase A, contributing further to the knowledge about diagnostics and pathology of Fabry disease. The newly investigated fluorescence-based live-cell-imaging technology of specifically tagged…
Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype
Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA…