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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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Ivanova, Ekaterina A., De Leo, Maria Giovanna, Van Den Heuvel, Lambertus, Pastore, Anna, Dijkman, Henry, De Matteis, Maria Antonietta, Levtchenko, Elena N.
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2015
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4374958/
https://ncbi.nlm.nih.gov/pubmed/25811383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0120998
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