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Items: 1 to 20 of 95

1.

X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice.

Bernard DJ, Nussbaum RL.

Mamm Genome. 2010 Apr;21(3-4):186-94. doi: 10.1007/s00335-010-9255-9. Epub 2010 Feb 27.

2.

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.

3.

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
4.

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.

5.

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe.

Luo N, Kumar A, Conwell M, Weinreb RN, Anderson R, Sun Y.

PLoS One. 2013 Jun 21;8(6):e66727. doi: 10.1371/journal.pone.0066727. Print 2013.

6.

Mouse model for Lowe syndrome/Dent Disease 2 renal tubulopathy.

Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL.

J Am Soc Nephrol. 2011 Mar;22(3):443-8. doi: 10.1681/ASN.2010050565. Epub 2010 Dec 23.

7.

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
8.

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.

9.

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.

10.

Disrupted sperm function and fertilin beta processing in mice deficient in the inositol polyphosphate 5-phosphatase Inpp5b.

Hellsten E, Evans JP, Bernard DJ, Jänne PA, Nussbaum RL.

Dev Biol. 2001 Dec 15;240(2):641-53.

12.

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

Suchy SF, Olivos-Glander IM, Nussabaum RL.

Hum Mol Genet. 1995 Dec;4(12):2245-50.

PMID:
8634694
13.

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.

14.

Maternal Rnf12/RLIM is required for imprinted X-chromosome inactivation in mice.

Shin J, Bossenz M, Chung Y, Ma H, Byron M, Taniguchi-Ishigaki N, Zhu X, Jiao B, Hall LL, Green MR, Jones SN, Hermans-Borgmeyer I, Lawrence JB, Bach I.

Nature. 2010 Oct 21;467(7318):977-81. doi: 10.1038/nature09457.

15.

Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection.

Kühbacher A, Dambournet D, Echard A, Cossart P, Pizarro-Cerdá J.

J Biol Chem. 2012 Apr 13;287(16):13128-36. doi: 10.1074/jbc.M111.315788. Epub 2012 Feb 18.

16.

Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens.

Jänne PA, Rochelle JM, Martin-DeLeon PA, Stambolian D, Seldin MF, Nussbaum RL.

Genomics. 1995 Jul 20;28(2):280-5.

PMID:
8530037
17.

[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.

18.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.

Cau M, Addis M, Congiu R, Meloni C, Cao A, Santaniello S, Loi M, Emma F, Zuffardi O, Ciccone R, Sole G, Melis MA.

J Hum Genet. 2006;51(11):1030-6. Epub 2006 Sep 6.

PMID:
16955230
19.

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.

PMID:
19700499
20.

Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling.

Bohdanowicz M, Balkin DM, De Camilli P, Grinstein S.

Mol Biol Cell. 2012 Jan;23(1):176-87. doi: 10.1091/mbc.E11-06-0489. Epub 2011 Nov 9.

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