Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells

Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells

Abstract Background Lowe syndrome (LS) is a rare genetic disorder caused by loss of function mutations in the X-linked gene, OCRL, which codes for inositol polyphosphate 5-phosphatase. LS is characterized by the triad of congenital cataracts, neurodevelopmental impairment (primarily intellectual and...

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Bibliographic Details
Main Authors: Jesse Barnes, Franklin Salas, Ryan Mokhtari, Hedwig Dolstra, Erika Pedrosa, Herbert M. Lachman
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Molecular Autism
Subjects:
Lowe syndrome
Dent disease
OCRL
INPP5B
Induced pluripotent stem cells
Autism
Online Access:http://link.springer.com/article/10.1186/s13229-018-0227-3

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http://link.springer.com/article/10.1186/s13229-018-0227-3

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