The phosphoinositide 3-kinase inhibitor alpelisib restores actin organization and improves proximal tubule dysfunction in vitro and in a mouse model of Lowe syndrome and Dent disease

Loss-of-function mutations in the OCRL gene, which encodes the phosphatidylinositol [PI] 4,5-bisphosphate [PI(4,5)P(2)] 5-phosphatase OCRL, cause defective endocytosis and proximal tubule dysfunction in Lowe syndrome and Dent disease 2. The defect is due to increased levels of PI(4,5)P(2) and aberra...

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Detalles Bibliográficos
Autores principales: Berquez, Marine, Gadsby, Jonathan R., Festa, Beatrice Paola, Butler, Richard, Jackson, Stephen P., Berno, Valeria, Luciani, Alessandro, Devuyst, Olivier, Gallop, Jennifer L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Basic Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550850/
https://www.ncbi.nlm.nih.gov/pubmed/32919786
http://dx.doi.org/10.1016/j.kint.2020.05.040

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7550850/
https://www.ncbi.nlm.nih.gov/pubmed/32919786
http://dx.doi.org/10.1016/j.kint.2020.05.040

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