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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發表在:Sci Rep
Main Authors: 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
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2017
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC5309805/
https://ncbi.nlm.nih.gov/pubmed/28198397
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep42583
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