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Items: 1 to 20 of 106

1.

Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Pirruccello M, Swan LE, Folta-Stogniew E, De Camilli P.

Nat Struct Mol Biol. 2011 Jun 12;18(7):789-95. doi: 10.1038/nsmb.2071.

2.

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.

Swan LE, Tomasini L, Pirruccello M, Lunardi J, De Camilli P.

Proc Natl Acad Sci U S A. 2010 Feb 23;107(8):3511-6. doi: 10.1073/pnas.0914658107. Epub 2010 Feb 2.

3.

All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding.

McCrea HJ, Paradise S, Tomasini L, Addis M, Melis MA, De Matteis MA, De Camilli P.

Biochem Biophys Res Commun. 2008 May 2;369(2):493-9. doi: 10.1016/j.bbrc.2008.02.067. Epub 2008 Feb 26.

4.

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

Erdmann KS, Mao Y, McCrea HJ, Zoncu R, Lee S, Paradise S, Modregger J, Biemesderfer D, Toomre D, De Camilli P.

Dev Cell. 2007 Sep;13(3):377-90.

5.

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

Bothwell SP, Farber LW, Hoagland A, Nussbaum RL.

Mamm Genome. 2010 Oct;21(9-10):458-66. doi: 10.1007/s00335-010-9281-7. Epub 2010 Sep 26.

6.

OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.

Montjean R, Aoidi R, Desbois P, Rucci J, Trichet M, Salomon R, Rendu J, Fauré J, Lunardi J, Gacon G, Billuart P, Dorseuil O.

Hum Mol Genet. 2015 Feb 15;24(4):994-1006. doi: 10.1093/hmg/ddu514. Epub 2014 Oct 9.

PMID:
25305077
7.

A PH domain within OCRL bridges clathrin-mediated membrane trafficking to phosphoinositide metabolism.

Mao Y, Balkin DM, Zoncu R, Erdmann KS, Tomasini L, Hu F, Jin MM, Hodsdon ME, De Camilli P.

EMBO J. 2009 Jul 8;28(13):1831-42. doi: 10.1038/emboj.2009.155. Epub 2009 Jun 18.

8.

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.

Pirruccello M, De Camilli P.

Trends Biochem Sci. 2012 Apr;37(4):134-43. doi: 10.1016/j.tibs.2012.01.002. Epub 2012 Feb 28. Review.

9.

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.

10.

[Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].

Shi RM, Bian XH, Li LM, Liu XH.

Zhongguo Dang Dai Er Ke Za Zhi. 2014 Apr;16(4):366-9. Chinese.

11.

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

Zhang X, Jefferson AB, Auethavekiat V, Majerus PW.

Proc Natl Acad Sci U S A. 1995 May 23;92(11):4853-6.

12.

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.

13.

[Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].

Chabaâ L, Monnier N, Dahri S, Jorio M, Lunardi J, Chabraoui L.

Ann Biol Clin (Paris). 2006 Jan-Feb;64(1):53-9. French.

14.

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

Kubota T, Sakurai A, Arakawa K, Shimazu M, Wakui K, Furihata K, Fukushima Y.

Clin Genet. 1998 Sep;54(3):199-202.

PMID:
9788721
15.

Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease.

Wu G, Zhang W, Na T, Jing H, Wu H, Peng JB.

Am J Physiol Cell Physiol. 2012 May 15;302(10):C1479-91. doi: 10.1152/ajpcell.00277.2011. Epub 2012 Feb 29.

16.

The role of the Lowe syndrome protein OCRL in the endocytic pathway.

Sharma S, Skowronek A, Erdmann KS.

Biol Chem. 2015 Dec;396(12):1293-300. doi: 10.1515/hsz-2015-0180. Review.

PMID:
26351914
17.

Novel OCRL mutations in Chinese children with Lowe syndrome.

Zhang YQ, Wang F, Ding J, Yan H, Yang YL.

World J Pediatr. 2013 Feb;9(1):53-7. doi: 10.1007/s12519-013-0406-4. Epub 2013 Feb 7.

PMID:
23389333
18.

Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy.

Inoue K, Balkin DM, Liu L, Nandez R, Wu Y, Tian X, Wang T, Nussbaum R, De Camilli P, Ishibe S.

J Am Soc Nephrol. 2017 May;28(5):1399-1407. doi: 10.1681/ASN.2016080913. Epub 2016 Nov 28.

PMID:
27895154
19.

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.

Luo N, West CC, Murga-Zamalloa CA, Sun L, Anderson RM, Wells CD, Weinreb RN, Travers JB, Khanna H, Sun Y.

Hum Mol Genet. 2012 Aug 1;21(15):3333-44. doi: 10.1093/hmg/dds163. Epub 2012 Apr 27.

20.

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.

Chou YY, Chao SC, Chiou YY, Lin SJ.

Acta Paediatr Taiwan. 2005 Jul-Aug;46(4):226-9.

PMID:
16381338

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