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

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

Abstract 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 ca...

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Bibliographic Details
Main Authors: Hequn Liu, Jesse Barnes, Erika Pedrosa, Nathaniel S. Herman, Franklin Salas, Ping Wang, Deyou Zheng, Herbert M. Lachman
Format: Article
Language:English
Published: BMC 2020-05-01
Series:Journal of Neurodevelopmental Disorders
Subjects:
Lowe syndrome
Dent disease
EFEMP1
Glaucoma
Macular degeneration
Cataracts
Online Access:http://link.springer.com/article/10.1186/s11689-020-09317-2

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http://link.springer.com/article/10.1186/s11689-020-09317-2

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