Oppici E - Search Results

1

S250F variant associated with aromatic amino acid decarboxylase deficiency: molecular defects and intracellular rescue by pyridoxine.

Montioli R, Oppici E, Cellini B, Roncador A, Dindo M, Voltattorni CB. Montioli R, et al. Among authors: oppici e. Hum Mol Genet. 2013 Apr 15;22(8):1615-24. doi: 10.1093/hmg/ddt011. Epub 2013 Jan 15. Hum Mol Genet. 2013. PMID: 23321058

2

Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.

Oppici E, Montioli R, Lorenzetto A, Bianconi S, Borri Voltattorni C, Cellini B. Oppici E, et al. Mol Genet Metab. 2012 Jan;105(1):132-40. doi: 10.1016/j.ymgme.2011.09.033. Epub 2011 Oct 5. Mol Genet Metab. 2012. PMID: 22018727 Free PMC article.

3

Interaction of human Dopa decarboxylase with L-Dopa: spectroscopic and kinetic studies as a function of pH.

Montioli R, Cellini B, Dindo M, Oppici E, Voltattorni CB. Montioli R, et al. Among authors: oppici e. Biomed Res Int. 2013;2013:161456. doi: 10.1155/2013/161456. Epub 2013 May 26. Biomed Res Int. 2013. PMID: 23781496 Free PMC article.

4

Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase.

Oppici E, Roncador A, Montioli R, Bianconi S, Cellini B. Oppici E, et al. Biochim Biophys Acta. 2013 Dec;1832(12):2277-88. doi: 10.1016/j.bbadis.2013.09.002. Epub 2013 Sep 17. Biochim Biophys Acta. 2013. PMID: 24055001 Free article.

5

The chaperone role of the pyridoxal 5'-phosphate and its implications for rare diseases involving B6-dependent enzymes.

Cellini B, Montioli R, Oppici E, Astegno A, Voltattorni CB. Cellini B, et al. Among authors: oppici e. Clin Biochem. 2014 Feb;47(3):158-65. doi: 10.1016/j.clinbiochem.2013.11.021. Epub 2013 Dec 16. Clin Biochem. 2014. PMID: 24355692 Review.

6

S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.

Montioli R, Roncador A, Oppici E, Mandrile G, Giachino DF, Cellini B, Borri Voltattorni C. Montioli R, et al. Among authors: oppici e. Hum Mol Genet. 2014 Nov 15;23(22):5998-6007. doi: 10.1093/hmg/ddu329. Epub 2014 Jul 2. Hum Mol Genet. 2014. PMID: 24990153 Free PMC article.

7

Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.

Montioli R, Oppici E, Dindo M, Roncador A, Gotte G, Cellini B, Borri Voltattorni C. Montioli R, et al. Among authors: oppici e. Biochim Biophys Acta. 2015 Oct;1854(10 Pt A):1280-9. doi: 10.1016/j.bbapap.2015.07.002. Epub 2015 Jul 3. Biochim Biophys Acta. 2015. PMID: 26149463

8

Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.

Oppici E, Fargue S, Reid ES, Mills PB, Clayton PT, Danpure CJ, Cellini B. Oppici E, et al. Hum Mol Genet. 2015 Oct 1;24(19):5500-11. doi: 10.1093/hmg/ddv276. Epub 2015 Jul 21. Hum Mol Genet. 2015. PMID: 26199318

9

Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I.

Cellini B, Montioli R, Paiardini A, Lorenzetto A, Maset F, Bellini T, Oppici E, Voltattorni CB. Cellini B, et al. Among authors: oppici e. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):2896-901. doi: 10.1073/pnas.0908565107. Epub 2010 Feb 1. Proc Natl Acad Sci U S A. 2010. PMID: 20133649 Free PMC article.

10

Human liver peroxisomal alanine:glyoxylate aminotransferase: Different stability under chemical stress of the major allele, the minor allele, and its pathogenic G170R variant.

Cellini B, Lorenzetto A, Montioli R, Oppici E, Voltattorni CB. Cellini B, et al. Among authors: oppici e. Biochimie. 2010 Dec;92(12):1801-11. doi: 10.1016/j.biochi.2010.08.005. Epub 2010 Aug 14. Biochimie. 2010. PMID: 20713123

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