Article

Investigating the role of OCRL, the gene mutated in Lowe syndrome, in neurons

2020-01-01

Abstract excerpt

Lowe syndrome, also known as Oculo-Cerebro-Renal syndrome of Lowe, is a rare X-linked condition that primarily affects the eye, the nervous system and the kidney. OCRL, the gene mutated in Lowe syndrome, encodes an homonymous protein called OCRL which is an inositol polyphosphate 5-phosphatase acting preferentially on PtdIns(4,5)P2. OCRL is known to exert several relevant functions in both non-neuronal and neurona...

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Literature Corpus work: 8b2c2424-0901-5971-82ae-76230b399e4e
DOI: 10.21954/ou.ro.0001138e

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