Voltattorni CB - Search Results

1

The novel R347g pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency.

Montioli R, Paiardini A, Kurian MA, Dindo M, Rossignoli G, Heales SJR, Pope S, Voltattorni CB, Bertoldi M. Montioli R, et al. Among authors: voltattorni cb. Biochim Biophys Acta. 2016 Jun;1864(6):676-682. doi: 10.1016/j.bbapap.2016.03.011. Epub 2016 Mar 17. Biochim Biophys Acta. 2016. PMID: 26994895

2

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: voltattorni cb. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.

3

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: voltattorni cb. 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

4

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.

Montioli R, Dindo M, Giorgetti A, Piccoli S, Cellini B, Voltattorni CB. Montioli R, et al. Among authors: voltattorni cb. Hum Mol Genet. 2014 Oct 15;23(20):5429-40. doi: 10.1093/hmg/ddu266. Epub 2014 May 27. Hum Mol Genet. 2014. PMID: 24865461

5

New variants of AADC deficiency expand the knowledge of enzymatic phenotypes.

Montioli R, Bisello G, Dindo M, Rossignoli G, Voltattorni CB, Bertoldi M. Montioli R, et al. Among authors: voltattorni cb. Arch Biochem Biophys. 2020 Mar 30;682:108263. doi: 10.1016/j.abb.2020.108263. Epub 2020 Jan 15. Arch Biochem Biophys. 2020. PMID: 31953134

6

Parkinson's Disease: Recent Updates in the Identification of Human Dopa Decarboxylase Inhibitors.

Montioli R, Voltattorni CB, Bertoldi M. Montioli R, et al. Among authors: voltattorni cb. Curr Drug Metab. 2016;17(5):513-8. doi: 10.2174/138920021705160324170558. Curr Drug Metab. 2016. PMID: 27025882 Review.

7

Multiple roles of the active site lysine of Dopa decarboxylase.

Bertoldi M, Voltattorni CB. Bertoldi M, et al. Among authors: voltattorni cb. Arch Biochem Biophys. 2009 Aug 15;488(2):130-9. doi: 10.1016/j.abb.2009.06.019. Epub 2009 Jul 4. Arch Biochem Biophys. 2009. PMID: 19580779

8

Human liver peroxisomal alanine:glyoxylate aminotransferase: characterization of the two allelic forms and their pathogenic variants.

Cellini B, Montioli R, Voltattorni CB. Cellini B, et al. Among authors: voltattorni cb. Biochim Biophys Acta. 2011 Nov;1814(11):1577-84. doi: 10.1016/j.bbapap.2010.12.005. Epub 2010 Dec 20. Biochim Biophys Acta. 2011. PMID: 21176891 Review.

9

New Insights Emerging from Recent Investigations on Human Group II Pyridoxal 5'-Phosphate Decarboxylases.

Paiardini A, Giardina G, Rossignoli G, Voltattorni CB, Bertoldi M. Paiardini A, et al. Among authors: voltattorni cb. Curr Med Chem. 2017;24(3):226-244. doi: 10.2174/0929867324666161123093339. Curr Med Chem. 2017. PMID: 27881066 Review.

10

Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: voltattorni cb. Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34244047 No abstract available.

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