Salvatore F - Search Results

1

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium.

Cerreto M, Cavaliere P, Carluccio C, Amato F, Zagari A, Daniele A, Salvatore F. Cerreto M, et al. Among authors: salvatore f. Biochim Biophys Acta. 2011 Nov;1812(11):1435-45. doi: 10.1016/j.bbadis.2011.07.012. Epub 2011 Jul 27. Biochim Biophys Acta. 2011. PMID: 21820508 Free article.

2

Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.

Esposito G, Vitagliano L, Santamaria R, Viola A, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. FEBS Lett. 2002 Nov 6;531(2):152-6. doi: 10.1016/s0014-5793(02)03451-8. FEBS Lett. 2002. PMID: 12417303 Free article.

3

Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function.

Esposito G, Vitagliano L, Costanzo P, Borrelli L, Barone R, Pavone L, Izzo P, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. Biochem J. 2004 May 15;380(Pt 1):51-6. doi: 10.1042/BJ20031941. Biochem J. 2004. PMID: 14766013 Free PMC article.

4

Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene.

Esposito G, Santamaria R, Vitagliano L, Ieno L, Viola A, Fiori L, Parenti G, Zancan L, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. Hum Mutat. 2004 Dec;24(6):534. doi: 10.1002/humu.9290. Hum Mutat. 2004. PMID: 15532022

5

Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants.

Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Esposito L, Correra A, Castaldo G, Zagari A, Salvatore F. Daniele A, et al. Among authors: salvatore f. Biochim Biophys Acta. 2008 Jun;1782(6):378-84. doi: 10.1016/j.bbadis.2008.01.012. Epub 2008 Feb 20. Biochim Biophys Acta. 2008. PMID: 18346471 Free article.

6

Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.

Daniele A, Scala I, Cardillo G, Pennino C, Ungaro C, Sibilio M, Parenti G, Esposito L, Zagari A, Andria G, Salvatore F. Daniele A, et al. Among authors: salvatore f. FEBS J. 2009 Apr;276(7):2048-59. doi: 10.1111/j.1742-4658.2009.06940.x. FEBS J. 2009. PMID: 19292873 Free article.

7

Gaining insights into the Bcr-Abl activity-independent mechanisms of resistance to imatinib mesylate in KCL22 cells: a comparative proteomic approach.

Colavita I, Esposito N, Martinelli R, Catanzano F, Melo JV, Pane F, Ruoppolo M, Salvatore F. Colavita I, et al. Among authors: salvatore f. Biochim Biophys Acta. 2010 Oct;1804(10):1974-87. doi: 10.1016/j.bbapap.2010.04.009. Epub 2010 Apr 24. Biochim Biophys Acta. 2010. PMID: 20417730

8

Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion.

Esposito G, Imperato MR, Ieno L, Sorvillo R, Benigno V, Parenti G, Parini R, Vitagliano L, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. Hum Mutat. 2010 Dec;31(12):1294-303. doi: 10.1002/humu.21359. Epub 2010 Nov 16. Hum Mutat. 2010. PMID: 20848650

9

A novel DHPLC-based procedure for the analysis of COL1A1 and COL1A2 mutations in osteogenesis imperfecta.

Fuccio A, Iorio M, Amato F, Elce A, Ingino R, Filocamo M, Castaldo G, Salvatore F, Tomaiuolo R. Fuccio A, et al. Among authors: salvatore f. J Mol Diagn. 2011 Nov;13(6):648-56. doi: 10.1016/j.jmoldx.2011.06.006. Epub 2011 Aug 30. J Mol Diagn. 2011. PMID: 21884818 Free PMC article.

10

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F. Esposito G, et al. Among authors: salvatore f. Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11. Hum Mutat. 2011. PMID: 21905166

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

855 results

Search Page

Filters