Emerging Perspectives on the Rare Tubulopathy Dent Disease: Is Glomerular Damage a Direct Consequence of ClC-5 Dysfunction?

Dent disease (DD1) is a rare tubulopathy caused by mutations in the CLCN5 gene. Glomerulosclerosis was recently reported in DD1 patients and ClC-5 protein was shown to be expressed in human podocytes. Nephrin and actin cytoskeleton play a key role for podocyte functions and podocyte endocytosis seem...

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Detalles Bibliográficos
Autores principales: Priante, Giovanna, Ceol, Monica, Gianesello, Lisa, Bizzotto, Dario, Braghetta, Paola, Calò, Lorenzo Arcangelo, Del Prete, Dorella, Anglani, Franca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864126/
https://www.ncbi.nlm.nih.gov/pubmed/36674829
http://dx.doi.org/10.3390/ijms24021313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9864126/
https://www.ncbi.nlm.nih.gov/pubmed/36674829
http://dx.doi.org/10.3390/ijms24021313

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