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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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Detalles Bibliográficos
Autores principales: Ivanova, Ekaterina A., De Leo, Maria Giovanna, Van Den Heuvel, Lambertus, Pastore, Anna, Dijkman, Henry, De Matteis, Maria Antonietta, Levtchenko, Elena N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374958/
https://www.ncbi.nlm.nih.gov/pubmed/25811383
http://dx.doi.org/10.1371/journal.pone.0120998