Dindo M - Search Results

1

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: dindo m. 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

2

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: dindo m. 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

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: dindo m. 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

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: dindo m. 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

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: dindo m. 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

6

The Chaperoning Activity of Amino-oxyacetic Acid on Folding-Defective Variants of Human Alanine:Glyoxylate Aminotransferase Causing Primary Hyperoxaluria Type I.

Oppici E, Montioli R, Dindo M, Maccari L, Porcari V, Lorenzetto A, Chellini S, Voltattorni CB, Cellini B. Oppici E, et al. Among authors: dindo m. ACS Chem Biol. 2015 Oct 16;10(10):2227-36. doi: 10.1021/acschembio.5b00480. Epub 2015 Jul 27. ACS Chem Biol. 2015. PMID: 26161999

7

Natural and Unnatural Compounds Rescue Folding Defects of Human Alanine: Glyoxylate Aminotransferase Leading to Primary Hyperoxaluria Type I.

Oppici E, Montioli R, Dindo M, Cellini B. Oppici E, et al. Among authors: dindo m. Curr Drug Targets. 2016;17(13):1482-91. doi: 10.2174/1389450117666160302095254. Curr Drug Targets. 2016. PMID: 26931357 Review.

8

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: dindo m. 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

9

Effects of interface mutations on the dimerization of alanine glyoxylate aminotransferase and implications in the mistargeting of the pathogenic variants F152I and I244T.

Dindo M, Montioli R, Busato M, Giorgetti A, Cellini B, Borri Voltattorni C. Dindo M, et al. Biochimie. 2016 Dec;131:137-148. doi: 10.1016/j.biochi.2016.10.001. Epub 2016 Oct 5. Biochimie. 2016. PMID: 27720751

10

Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B₆.

Dindo M, Oppici E, Dell'Orco D, Montone R, Cellini B. Dindo M, et al. J Inherit Metab Dis. 2018 Mar;41(2):263-275. doi: 10.1007/s10545-017-0105-8. Epub 2017 Nov 6. J Inherit Metab Dis. 2018. PMID: 29110180

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