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Proteomics analysis of podocytes with alpha-galactosidase knockdown

ABSTRACT: We subjected human podocytes with and without alpha-Galactosidase knockdown to proteomic analysis.

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

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Urine-derived cells: a promising diagnostic tool in Fabry disease patients.

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]

PMID: 30038331

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