Nussbaum RL - Search Results

1

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. Among authors: nussbaum rl. Hum Mol Genet. 2019 Jun 15;28(12):1931-1946. doi: 10.1093/hmg/ddy449. Hum Mol Genet. 2019. PMID: 30590522 Free PMC article.

2

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex.

Olivos-Glander IM, Jänne PA, Nussbaum RL. Olivos-Glander IM, et al. Among authors: nussbaum rl. Am J Hum Genet. 1995 Oct;57(4):817-23. Am J Hum Genet. 1995. PMID: 7573041 Free PMC article.

3

Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.

Leahey AM, Charnas LR, Nussbaum RL. Leahey AM, et al. Among authors: nussbaum rl. Hum Mol Genet. 1993 Apr;2(4):461-3. doi: 10.1093/hmg/2.4.461. Hum Mol Genet. 1993. PMID: 8504307

4

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

Nussbaum RL, Orrison BM, Jänne PA, Charnas L, Chinault AC. Nussbaum RL, et al. Hum Genet. 1997 Feb;99(2):145-50. doi: 10.1007/s004390050329. Hum Genet. 1997. PMID: 9048911

5

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. Lin T, et al. Among authors: nussbaum rl. Am J Hum Genet. 1997 Jun;60(6):1384-8. doi: 10.1086/515471. Am J Hum Genet. 1997. PMID: 9199559 Free PMC article.

6

The deficiency of PIP2 5-phosphatase in Lowe syndrome affects actin polymerization.

Suchy SF, Nussbaum RL. Suchy SF, et al. Among authors: nussbaum rl. Am J Hum Genet. 2002 Dec;71(6):1420-7. doi: 10.1086/344517. Epub 2002 Nov 11. Am J Hum Genet. 2002. PMID: 12428211 Free PMC article.

7

Dent Disease with mutations in OCRL1.

Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ. Hoopes RR Jr, et al. Among authors: nussbaum rl. Am J Hum Genet. 2005 Feb;76(2):260-7. doi: 10.1086/427887. Epub 2004 Dec 30. Am J Hum Genet. 2005. PMID: 15627218 Free PMC article.

8

Extensive enteric nervous system abnormalities in mice transgenic for artificial chromosomes containing Parkinson disease-associated alpha-synuclein gene mutations precede central nervous system changes.

Kuo YM, Li Z, Jiao Y, Gaborit N, Pani AK, Orrison BM, Bruneau BG, Giasson BI, Smeyne RJ, Gershon MD, Nussbaum RL. Kuo YM, et al. Among authors: nussbaum rl. Hum Mol Genet. 2010 May 1;19(9):1633-50. doi: 10.1093/hmg/ddq038. Epub 2010 Jan 27. Hum Mol Genet. 2010. PMID: 20106867 Free PMC article.

9

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. Among authors: nussbaum rl. 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.

10

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. 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.

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