Proteomics

Dataset Information

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Proteomic analysis of cultured primary urinary cells from M. Fabry Patients


ABSTRACT: We analyzed the proteome of primary urinary cells from patients with M. Fabry as compared to primary urinary cells from healthy control samples

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Kidney

SUBMITTER: Markus Rinschen  

LAB HEAD: Markus Rinschen

PROVIDER: PXD007081 | Pride | 2018-10-17

REPOSITORIES: Pride

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Publications

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]

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