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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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Detaylı Bibliyografya
Yayımlandı:Sci Rep
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2017
Konular:
Online Erişim: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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