Ontology highlight
ABSTRACT:
INSTRUMENT(S): Q Exactive
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Kidney
SUBMITTER: Markus Rinschen
LAB HEAD: Markus Rinschen
PROVIDER: PXD007080 | Pride | 2018-10-17
REPOSITORIES: Pride
Items per page: 5 1 - 5 of 26 |
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]