Associated Papers
The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.
Chen C et al.
Journal of Developmental Biology, 2022
Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?
Gianesello L et al.
Genes, 2021
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Zaniew M et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2018
Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.
Suruda C et al.
Pediatric Nephrology (berlin, Germany), 2017
The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.
Oltrabella F et al.
Plos Genetics, 2015
Japanese Dent disease has a wider clinical spectrum than Dent disease in Europe/USA: genetic and clinical studies of 86 unrelated patients with low-molecular-weight proteinuria.
Sekine T et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Recognition of the F&H motif by the Lowe syndrome protein OCRL.
Pirruccello M et al.
Nature Structural & Molecular Biology, 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
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