Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.

doi:10.1111/bjh.17346

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Article

Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome.

British journal of haematology - 1 Mar 2021

Egot Marion, Lasne Dominique, Poirault-Chassac Sonia, Mirault Tristan, Pidard Dominique, Dreano Elise, Elie Caroline, Gandrille Sophie, Marchelli Aurore, Baruch Dominique, Rendu John, Fauré Julien, Flaujac Claire, Gratacap Marie-Pierre, Sié Pierre, Gaussem Pascale, Salomon Rémi, Baujat Geneviève, Bachelot-Loza Christilla

Abstract excerpt

Lowe syndrome (LS) is an oculocerebrorenal syndrome of Lowe (OCRL1) genetic disorder resulting in a defect of the OCRL protein, a phosphatidylinositol-4,5-bisphosphate 5-phosphatase containing various domains including a Rho GTPase-activating protein (RhoGAP) homology domain catalytically inactive. We previously reported surgery-associated bleeding in patients with LS, suggestive of platelet dysfunction,...

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PMID: 33528045
DOI: 10.1111/bjh.17346

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