Article
Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility.
Kidney international - 1 May 2016
Ivanova Ekaterina A, Arcolino Fanny O, Elmonem Mohamed A, Rastaldi Maria P, Giardino Laura, Cornelissen Elisabeth M, van den Heuvel Lambertus P, Levtchenko Elena N
Abstract excerpt
The involvement of the glomerulus in the pathogenesis of cystinosis, caused by loss-of-function mutations in cystinosin (CTNS, 17p13), is a matter of controversy. Although patients with cystinosis demonstrate glomerular lesions and high-molecular-weight proteinuria starting from an early age, a mouse model of cystinosis develops only signs of proximal tubular dysfunction. Here we studied podocyte damage in...
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