Article

Defective Neuronal Differentiation in Lowe Syndrome is Associated with Mitochondrial Dysfunction and Impaired Cilia-related Sonic Hedgehog Signaling

2024-11-02

Abstract excerpt

Human brain development requires tight coordination of metabolic and signaling pathways. Lowe syndrome (LS) is a recessive X-linked disorder characterized by proximal tubular renal disease, congenital cataracts, glaucoma, and neurodevelopmental delays. While LS results from mutations in the OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, the cellular mechanisms driving neuronal dysfunction remai...

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Literature Corpus work: 495d9cf8-dd95-5fc5-b98a-ea99a3697f29
DOI: 10.1101/2024.11.01.621496

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