Recognition of the F&amp;H; motif by the Lowe syndrome protein OCRL (Q27670414)

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3130824/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway

20 March 2017

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Structure of the APPL1 BAR-PH domain and characterization of its interaction with Rab5

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Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases

20 March 2017

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APPL proteins link Rab5 to nuclear signal transduction via an endosomal compartment

20 March 2017

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Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network

20 March 2017

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Structures of Cdc42 bound to the active and catalytically compromised forms of Cdc42GAP

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The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

20 March 2017

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Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations

20 March 2017

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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

20 March 2017

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Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes

20 March 2017

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Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice

20 March 2017

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Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

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Oculocerebrorenal syndrome of Lowe: Three mutations in theOCRL1 gene derived from three patients with different phenotypes

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Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome

22 April 2017

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Identification of phosphorylation sites within the signaling adaptor APPL1 by mass spectrometry.

29 September 2017

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Dent-2 disease: a mild variant of Lowe syndrome

29 September 2017

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A phosphoinositide switch controls the maturation and signaling properties of APPL endosomes

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29 September 2017

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The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin

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Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells

29 September 2017

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Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome

29 September 2017

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The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

29 September 2017

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A novel domain suggests a ciliary function for ASPM, a brain size determining gene

29 September 2017

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Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome

2 June 2018

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Evidence for a discrete behavioral phenotype in the oculocerebrorenal syndrome of Lowe.

2 June 2018

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Large scale screening for novel rab effectors reveals unexpected broad Rab binding specificity

21 January 2018

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Genetic variation in ICF syndrome: evidence for genetic heterogeneity

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OCRL mutation analysis in Italian patients with Lowe syndrome

21 January 2018

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Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.

21 January 2018

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The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.

21 January 2018

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Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry.

21 January 2018

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OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.

21 January 2018

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From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes

27 November 2018

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Solution structure of the E.coli TolA C-terminal domain reveals conformational changes upon binding to the phage g3p N-terminal domain

31 March 2020

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Purification and identification of novel Rab effectors using affinity chromatography

31 March 2020

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