Article
Oculocerebrorenal syndrome of Lowe protein controls cytoskeletal reorganisation during human platelet spreading.
British journal of haematology - 1 Jan 2023
Bura Ana, de Matteis Maria Antonietta, Bender Markus, Swinkels Maurice, Versluis Jurjen, Jansen A J Gerard, Jurak Begonja Antonija
Abstract excerpt
Lowe syndrome (LS) is a rare, X-linked disorder characterised by numerous symptoms affecting the brain, the eyes, and the kidneys. It is caused by mutations in the oculocerebrorenal syndrome of Lowe (OCRL) protein, a 5-phosphatase localised in different cellular compartments that dephosphorylates phosphatidylinositol-4,5-bisphosphate into phosphatidylinositol-4-monophosphate. Some patients with LS also have...
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