Rampoldi L - Search Results

1

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure.

Bernascone I, Janas S, Ikehata M, Trudu M, Corbelli A, Schaeffer C, Rastaldi MP, Devuyst O, Rampoldi L. Bernascone I, et al. Among authors: rampoldi l. Hum Mol Genet. 2010 Aug 1;19(15):2998-3010. doi: 10.1093/hmg/ddq205. Epub 2010 May 14. Hum Mol Genet. 2010. PMID: 20472742

2

Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Rampoldi L, et al. Hum Mol Genet. 2003 Dec 15;12(24):3369-84. doi: 10.1093/hmg/ddg353. Epub 2003 Oct 21. Hum Mol Genet. 2003. PMID: 14570709

3

Uromodulin storage diseases: clinical aspects and mechanisms.

Scolari F, Caridi G, Rampoldi L, Tardanico R, Izzi C, Pirulli D, Amoroso A, Casari G, Ghiggeri GM. Scolari F, et al. Among authors: rampoldi l. Am J Kidney Dis. 2004 Dec;44(6):987-99. doi: 10.1053/j.ajkd.2004.08.021. Am J Kidney Dis. 2004. PMID: 15558519 Review.

4

Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy.

Tinschert S, Ruf N, Bernascone I, Sacherer K, Lamorte G, Neumayer HH, Nürnberg P, Luft FC, Rampoldi L. Tinschert S, et al. Among authors: rampoldi l. Nephrol Dial Transplant. 2004 Dec;19(12):3150-4. doi: 10.1093/ndt/gfh524. Nephrol Dial Transplant. 2004. PMID: 15575003

5

Defective intracellular trafficking of uromodulin mutant isoforms.

Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L. Bernascone I, et al. Among authors: rampoldi l. Traffic. 2006 Nov;7(11):1567-79. doi: 10.1111/j.1600-0854.2006.00481.x. Epub 2006 Sep 30. Traffic. 2006. PMID: 17010121 Free article.

6

Urinary uromodulin carries an intact ZP domain generated by a conserved C-terminal proteolytic cleavage.

Santambrogio S, Cattaneo A, Bernascone I, Schwend T, Jovine L, Bachi A, Rampoldi L. Santambrogio S, et al. Among authors: rampoldi l. Biochem Biophys Res Commun. 2008 Jun 6;370(3):410-3. doi: 10.1016/j.bbrc.2008.03.099. Epub 2008 Mar 28. Biochem Biophys Res Commun. 2008. PMID: 18375198

7

Analysis of uromodulin polymerization provides new insights into the mechanisms regulating ZP domain-mediated protein assembly.

Schaeffer C, Santambrogio S, Perucca S, Casari G, Rampoldi L. Schaeffer C, et al. Among authors: rampoldi l. Mol Biol Cell. 2009 Jan;20(2):589-99. doi: 10.1091/mbc.e08-08-0876. Epub 2008 Nov 12. Mol Biol Cell. 2009. PMID: 19005207 Free PMC article.

8

Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.

Manfredi I, Zani AD, Rampoldi L, Pegorini S, Bernascone I, Moretti M, Gotti C, Croci L, Consalez GG, Ferini-Strambi L, Sala M, Pattini L, Casari G. Manfredi I, et al. Among authors: rampoldi l. Hum Mol Genet. 2009 Mar 15;18(6):1075-88. doi: 10.1093/hmg/ddp004. Epub 2009 Jan 18. Hum Mol Genet. 2009. PMID: 19153075

9

Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expression.

Zaucke F, Boehnlein JM, Steffens S, Polishchuk RS, Rampoldi L, Fischer A, Pasch A, Boehm CW, Baasner A, Attanasio M, Hoppe B, Hopfer H, Beck BB, Sayer JA, Hildebrandt F, Wolf MT. Zaucke F, et al. Among authors: rampoldi l. Hum Mol Genet. 2010 May 15;19(10):1985-97. doi: 10.1093/hmg/ddq077. Epub 2010 Feb 18. Hum Mol Genet. 2010. PMID: 20172860 Free PMC article.

10

The rediscovery of uromodulin (Tamm-Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease.

Rampoldi L, Scolari F, Amoroso A, Ghiggeri G, Devuyst O. Rampoldi L, et al. Kidney Int. 2011 Aug;80(4):338-47. doi: 10.1038/ki.2011.134. Epub 2011 Jun 8. Kidney Int. 2011. PMID: 21654721 Free article. Review.

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