Associated Papers
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.
Ramadesikan S et al.
Human Molecular Genetics, 2021
Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.
Perdomo-Ramirez A et al.
Intractable & Rare Diseases Research, 2020
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Oltrabella F et al.
Plos Genetics, 2015
OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.
Luo N et al.
Human Molecular Genetics, 2012
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
Pirruccello M et al.
Trends in Biochemical Sciences, 2012
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Pirruccello M et al.
Nature Structural & Molecular Biology, 2011
A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.
Hou X et al.
The Embo Journal, 2011
From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
Hichri H et al.
Human Mutation, 2011
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
Swan LE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome.
Hagemann N et al.
Small Gtpases, 0
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