Transcriptome analysis of neural progenitor cells derived from Lowe syndrome induced pluripotent stem cells: identification of candidate genes for the neurodevelopmental and eye manifestations

BACKGROUND: Lowe syndrome (LS) is caused by loss-of-function mutations in the X-linked gene OCRL, which codes for an inositol polyphosphate 5-phosphatase that plays a key role in endosome recycling, clathrin-coated pit formation, and actin polymerization. It is characterized by congenital cataracts,...

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Detalles Bibliográficos
Autores principales: Liu, Hequn, Barnes, Jesse, Pedrosa, Erika, Herman, Nathaniel S., Salas, Franklin, Wang, Ping, Zheng, Deyou, Lachman, Herbert M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212686/
https://www.ncbi.nlm.nih.gov/pubmed/32393163
http://dx.doi.org/10.1186/s11689-020-09317-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7212686/
https://www.ncbi.nlm.nih.gov/pubmed/32393163
http://dx.doi.org/10.1186/s11689-020-09317-2

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