Nussbaum R - Search Results

1

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. Inoue K, et al. Among authors: nussbaum r. J Am Soc Nephrol. 2017 May;28(5):1399-1407. doi: 10.1681/ASN.2016080913. Epub 2016 Nov 28. J Am Soc Nephrol. 2017. PMID: 27895154 Free PMC article.

2

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

Bothwell SP, Chan E, Bernardini IM, Kuo YM, Gahl WA, Nussbaum RL. Bothwell SP, et al. J Am Soc Nephrol. 2011 Mar;22(3):443-8. doi: 10.1681/ASN.2010050565. Epub 2010 Dec 23. J Am Soc Nephrol. 2011. PMID: 21183592 Free PMC article.

3

OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease.

Festa BP, Berquez M, Gassama A, Amrein I, Ismail HM, Samardzija M, Staiano L, Luciani A, Grimm C, Nussbaum RL, De Matteis MA, Dorchies OM, Scapozza L, Wolfer DP, Devuyst O. Festa BP, et al. Hum Mol Genet. 2019 Jun 15;28(12):1931-1946. doi: 10.1093/hmg/ddy449. Hum Mol Genet. 2019. PMID: 30590522 Free PMC article.

4

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

Wenk MR, Lucast L, Di Paolo G, Romanelli AJ, Suchy SF, Nussbaum RL, Cline GW, Shulman GI, McMurray W, De Camilli P. Wenk MR, et al. Among authors: nussbaum rl. Nat Biotechnol. 2003 Jul;21(7):813-7. doi: 10.1038/nbt837. Epub 2003 Jun 15. Nat Biotechnol. 2003. PMID: 12808461

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. Bothwell SP, et al. Mamm Genome. 2010 Oct;21(9-10):458-66. doi: 10.1007/s00335-010-9281-7. Epub 2010 Sep 26. Mamm Genome. 2010. PMID: 20872266 Free PMC article.

6

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

Bernard DJ, Nussbaum RL. Bernard DJ, et al. Mamm Genome. 2010 Apr;21(3-4):186-94. doi: 10.1007/s00335-010-9255-9. Epub 2010 Feb 27. Mamm Genome. 2010. PMID: 20195868 Free PMC article.

7

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. Jänne PA, et al. Among authors: nussbaum rl. J Clin Invest. 1998 May 15;101(10):2042-53. doi: 10.1172/JCI2414. J Clin Invest. 1998. PMID: 9593760 Free PMC article.

8

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

Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. Attree O, et al. Among authors: nussbaum rl. Nature. 1992 Jul 16;358(6383):239-42. doi: 10.1038/358239a0. Nature. 1992. PMID: 1321346

9

Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with yeast artificial chromosomes.

Okabe I, Attree O, Bailey LC, Nelson DL, Nussbaum RL. Okabe I, et al. Among authors: nussbaum rl. J Inherit Metab Dis. 1992;15(4):526-31. doi: 10.1007/BF01799611. J Inherit Metab Dis. 1992. PMID: 1528013

10

Disruption of three phosphatidylinositol-polyphosphate 5-phosphatase genes from Saccharomyces cerevisiae results in pleiotropic abnormalities of vacuole morphology, cell shape, and osmohomeostasis.

Srinivasan S, Seaman M, Nemoto Y, Daniell L, Suchy SF, Emr S, De Camilli P, Nussbaum R. Srinivasan S, et al. Among authors: nussbaum r. Eur J Cell Biol. 1997 Dec;74(4):350-60. Eur J Cell Biol. 1997. PMID: 9438131

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