Ontology highlight
ABSTRACT:
SUBMITTER: Slaats GG
PROVIDER: S-EPMC6056427 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Slaats Gisela G GG Braun Fabian F Hoehne Martin M Frech Laura E LE Blomberg Linda L Benzing Thomas T Schermer Bernhard B Rinschen Markus M MM Kurschat Christine E CE
Scientific reports 20180723 1
Fabry disease is a lysosomal storage disorder resulting from impaired alpha-galactosidase A (α-Gal A) enzyme activity due to mutations in the GLA gene. Currently, powerful diagnostic tools and in vivo research models to study Fabry disease are missing, which is a major obstacle for further improvements in diagnosis and therapy. Here, we explore the utility of urine-derived primary cells of Fabry disease patients. Viable cells were isolated and cultured from fresh urine void. The obtained cell cu ...[more]