Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies

Dent disease (DD), an X-linked renal tubulopathy, is mainly caused by loss-of-function mutations in CLCN5 (DD1) and OCRL genes. CLCN5 encodes the ClC-5 antiporter that in proximal tubules (PT) participates in the receptor-mediated endocytosis of low molecular weight proteins. Few studies have analyz...

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Vydáno v:Int J Mol Sci
Hlavní autoři: Gianesello, Lisa, Ceol, Monica, Bertoldi, Loris, Terrin, Liliana, Priante, Giovanna, Murer, Luisa, Peruzzi, Licia, Giordano, Mario, Paglialonga, Fabio, Cantaluppi, Vincenzo, Musetti, Claudio, Valle, Giorgio, Del Prete, Dorella, Anglani, Franca
Médium: Artigo
Jazyk:Inglês
Vydáno: MDPI 2020
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7014080/
https://ncbi.nlm.nih.gov/pubmed/31947599
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21020516
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