Kidney-differentiated cells derived from Lowe Syndrome patient’s iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex

Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substan...

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Detalles Bibliográficos
Autores principales: Hsieh, Wen-Chieh, Ramadesikan, Swetha, Fekete, Donna, Aguilar, Ruben Claudio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812626/
https://www.ncbi.nlm.nih.gov/pubmed/29444177
http://dx.doi.org/10.1371/journal.pone.0192635

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812626/
https://www.ncbi.nlm.nih.gov/pubmed/29444177
http://dx.doi.org/10.1371/journal.pone.0192635

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