Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.

Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidneys. Early manifestations of the disease include ren...

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Auteurs principaux:	Ekaterina A Ivanova, Maria Giovanna De Leo, Lambertus Van Den Heuvel, Anna Pastore, Henry Dijkman, Maria Antonietta De Matteis, Elena N Levtchenko
Format:	Artigo
Langue:	Inglês
Publié:	Public Library of Science (PLoS) 2015-01-01
Collection:	PLoS ONE
Accès en ligne:	https://doi.org/10.1371/journal.pone.0120998
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