Induced pluripotent stem cell-based disease modeling identifies ligand-induced decay of megalin as a cause of Donnai-Barrow syndrome

Donnai-Barrow syndrome (DBS) is an autosomal-recessive disorder characterized by multiple pathologies including malformation of forebrain and eyes, as well as resorption defects of the kidney proximal tubule. The underlying cause of DBS are mutations in LRP2, encoding the multifunctional endocytic r...

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Detalles Bibliográficos
Autores principales: Flemming, Julia, Marczenke, Maike, Rudolph, Ina-Maria, Nielsen, Rikke, Storm, Tina, Erik, Ilsoe Christensen, Diecke, Sebastian, Emma, Francesco, Willnow, Thomas E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322522/
https://www.ncbi.nlm.nih.gov/pubmed/32471643
http://dx.doi.org/10.1016/j.kint.2020.02.021

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7322522/
https://www.ncbi.nlm.nih.gov/pubmed/32471643
http://dx.doi.org/10.1016/j.kint.2020.02.021

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