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Items: 1 to 20 of 105


Impaired neural development in a zebrafish model for Lowe syndrome.

Ramirez IB, Pietka G, Jones DR, Divecha N, Alia A, Baraban SC, Hurlstone AF, Lowe M.

Hum Mol Genet. 2012 Apr 15;21(8):1744-59. doi: 10.1093/hmg/ddr608. Epub 2011 Dec 30.


Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network.

Choudhury R, Diao A, Zhang F, Eisenberg E, Saint-Pol A, Williams C, Konstantakopoulos A, Lucocq J, Johannes L, Rabouille C, Greene LE, Lowe M.

Mol Biol Cell. 2005 Aug;16(8):3467-79. Epub 2005 May 25.


The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, Lowe M, Beales PL, Aguilar RC.

Hum Mol Genet. 2012 Apr 15;21(8):1835-47. doi: 10.1093/hmg/ddr615. Epub 2012 Jan 6.


Structure and function of the Lowe syndrome protein OCRL1.

Lowe M.

Traffic. 2005 Sep;6(9):711-9. Review.


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

Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL.

J Clin Invest. 1998 May 15;101(10):2042-53.


A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.

Sugimoto K, Nishi H, Miyazawa T, Fujita S, Okada M, Takemura T.

Tohoku J Exp Med. 2014;232(3):163-6.


Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.

Coon BG, Mukherjee D, Hanna CB, Riese DJ 2nd, Lowe M, Aguilar RC.

Hum Mol Genet. 2009 Dec 1;18(23):4478-91. doi: 10.1093/hmg/ddp407. Epub 2009 Aug 21.


The cellular and physiological functions of the Lowe syndrome protein OCRL1.

Mehta ZB, Pietka G, Lowe M.

Traffic. 2014 May;15(5):471-87. doi: 10.1111/tra.12160. Epub 2014 Mar 7. Review.


OCRL1 modulates cilia length in renal epithelial cells.

Rbaibi Y, Cui S, Mo D, Carattino M, Rohatgi R, Satlin LM, Szalinski CM, Swanhart LM, Fölsch H, Hukriede NA, Weisz OA.

Traffic. 2012 Sep;13(9):1295-305. doi: 10.1111/j.1600-0854.2012.01387.x. Epub 2012 Jul 4.


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, Hou X, Goody RS, Itzen A, Erdmann KS.

Small GTPases. 2012 Apr-Jun;3(2):107-10. doi: 10.4161/sgtp.19380. Review.


Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

Faucherre A, Desbois P, Nagano F, Satre V, Lunardi J, Gacon G, Dorseuil O.

Hum Mol Genet. 2005 Jun 1;14(11):1441-8. Epub 2005 Apr 13.


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

Hyvola N, Diao A, McKenzie E, Skippen A, Cockcroft S, Lowe M.

EMBO J. 2006 Aug 23;25(16):3750-61. Epub 2006 Aug 10.


A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.

Hou X, Hagemann N, Schoebel S, Blankenfeldt W, Goody RS, Erdmann KS, Itzen A.

EMBO J. 2011 Apr 20;30(8):1659-70. doi: 10.1038/emboj.2011.60. Epub 2011 Mar 4.


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

Hichri H, Rendu J, Monnier N, Coutton C, Dorseuil O, Poussou RV, Baujat G, Blanchard A, Nobili F, Ranchin B, Remesy M, Salomon R, Satre V, Lunardi J.

Hum Mutat. 2011 Apr;32(4):379-88. doi: 10.1002/humu.21391. Epub 2011 Mar 10.


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

Lin T, Orrison BM, Leahey AM, Suchy SF, Bernard DJ, Lewis RA, Nussbaum RL.

Am J Hum Genet. 1997 Jun;60(6):1384-8.


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

Faucherre A, Desbois P, Satre V, Lunardi J, Dorseuil O, Gacon G.

Hum Mol Genet. 2003 Oct 1;12(19):2449-56. Epub 2003 Jul 29.


Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.

Choudhury R, Noakes CJ, McKenzie E, Kox C, Lowe M.

J Biol Chem. 2009 Apr 10;284(15):9965-73. doi: 10.1074/jbc.M807442200. Epub 2009 Feb 11.


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

Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):121-8. Epub 2006 Jun 13.


Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.

Ke YH, He JW, Fu WZ, Zhang ZL.

Nephrology (Carlton). 2012 Jan;17(1):20-5. doi: 10.1111/j.1440-1797.2011.01514.x.


Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells.

Grieve AG, Daniels RD, Sanchez-Heras E, Hayes MJ, Moss SE, Matter K, Lowe M, Levine TP.

PLoS One. 2011;6(8):e24044. doi: 10.1371/journal.pone.0024044. Epub 2011 Aug 25.

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