Article

Enhanced Notch dependent gliogenesis and delayed physiological maturation underlie neurodevelopmental defects in Lowe syndrome

2024-11-26

Abstract excerpt

The activity of signaling pathways is required for coordinated cellular and physiological processes leading to normal development of brain structure and function. Mutations in OCRL , a phosphatidylinositol 4,5 bisphosphate [PIP 2 ] 5-phosphatase leads to the neurodevelopmental disorder, Lowe Syndrome (LS). However, the mechanism by which mutations in OCRL leads to the brain phenotypes of LS is not understood. W...

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Literature Corpus work: 6232fbda-9f68-59b5-b7d4-77bbe3a755a3
DOI: 10.1101/2024.11.25.625332

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