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Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction

The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystino...

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Detalles Bibliográficos
Autores principales:	Elmonem, Mohamed A., Khalil, Ramzi, Khodaparast, Ladan, Khodaparast, Laleh, Arcolino, Fanny O., Morgan, Joseph, Pastore, Anna, Tylzanowski, Przemko, Ny, Annelii, Lowe, Martin, de Witte, Peter A., Baelde, Hans J., van den Heuvel, Lambertus P., Levtchenko, Elena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5309805/ https://www.ncbi.nlm.nih.gov/pubmed/28198397 http://dx.doi.org/10.1038/srep42583

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