PMC Links for Protein (Select 13325070) - PMC

Select item 63349801.

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract

Ahmed K. Shalaby, Peter Emery-Billcliff, Diana Baralle, Tabib Dabir, Shahiba Begum, Sarah Waller, Lydia Tabernero, Martin Lowe, James Self

Mol Vis. 2018; 24: 847–852. Published online 2018 Dec 31.

PMCID:: PMC6334980

Abstract Article PDF–2.4M

Select item 16831752.

Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.

O T Mueller, J K Hartsfield, Jr, L A Gallardo, Y P Essig, K L Miller, P R Papenhausen, T A Tedesco

Am J Hum Genet. 1991 Oct; 49(4): 804–810.

PMCID:: PMC1683175

Summary Page Browse PDF–1.2M

Select item 418053.

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5-bisphosphate 5-phosphatase.

X Zhang, A B Jefferson, V Auethavekiat, P W Majerus

Proc Natl Acad Sci U S A. 1995 May 23; 92(11): 4853–4856. doi: 10.1073/pnas.92.11.4853

PMCID:: PMC41805

Summary Page Browse PDF–1.0M

Select item 50540734.

Phylogenetic Analysis of RhoGAP Domain-Containing Proteins

Marcelo M. Brandão, Karina L. Silva-Brandão, Fernando F. Costa, Sara T.O. Saad

Genomics Proteomics Bioinformatics. 2006; 4(3): 182–188. Published online 2006 Nov 24. doi: 10.1016/S1672-0229(06)60031-4

PMCID:: PMC5054073

Abstract Article PDF–762K

Select item 26651205.

Differential Clathrin Binding and Subcellular Localization of OCRL1 Splice Isoforms

Rawshan Choudhury, Christopher J. Noakes, Edward McKenzie, Corinne Kox, Martin Lowe

J Biol Chem. 2009 Apr 10; 284(15): 9965–9973. doi: 10.1074/jbc.M807442200

PMCID:: PMC2665120

Abstract Article PDF–1.1M

Select item 15531916.

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

Noora Hyvola, Aipo Diao, Eddie McKenzie, Alison Skippen, Shamshad Cockcroft, Martin Lowe

EMBO J. 2006 Aug 23; 25(16): 3750–3761. Published online 2006 Aug 10. doi: 10.1038/sj.emboj.7601274

PMCID:: PMC1553191

Abstract Article PDF–576K

Select item 13796447.

Identification of mitogen-activated protein kinase docking sites in enzymes that metabolize phosphatidylinositols and inositol phosphates

Kevin K Caldwell, Marcos Sosa, Colin T Buckley

Cell Commun Signal. 2006; 4: 2. Published online 2006 Jan 30. doi: 10.1186/1478-811X-4-2

PMCID:: PMC1379644

Abstract Article PDF–723K

Select item 11822898.

Lowe Syndrome Protein OCRL1 Interacts with Clathrin and Regulates Protein Trafficking between Endosomes and the Trans-Golgi Network

Rawshan Choudhury, Aipo Diao, Fang Zhang, Evan Eisenberg, Agnes Saint-Pol, Catrin Williams, Athanasios Konstantakopoulos, John Lucocq, Ludger Johannes, Catherine Rabouille, Lois E. Greene, Martin Lowe

Mol Biol Cell. 2005 Aug; 16(8): 3467–3479. doi: 10.1091/mbc.E05-02-0120

PMCID:: PMC1182289

Abstract Article PDF–730K

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