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Homogentisic acid induces aggregation and fibrillation of amyloidogenic proteins.
Braconi D, Millucci L, Bernini A, Spiga O, Lupetti P, Marzocchi B, Niccolai N, Bernardini G, Santucci A. Braconi D, et al. Among authors: santucci a. Biochim Biophys Acta Gen Subj. 2017 Feb;1861(2):135-146. doi: 10.1016/j.bbagen.2016.11.026. Epub 2016 Nov 16. Biochim Biophys Acta Gen Subj. 2017. PMID: 27865997
ApreciseKUre: an approach of Precision Medicine in a Rare Disease.
Spiga O, Cicaloni V, Bernini A, Zatkova A, Santucci A. Spiga O, et al. Among authors: santucci a. BMC Med Inform Decis Mak. 2017 Apr 14;17(1):42. doi: 10.1186/s12911-017-0438-0. BMC Med Inform Decis Mak. 2017. PMID: 28410607 Free PMC article.
Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.
Bernini A, Galderisi S, Spiga O, Bernardini G, Niccolai N, Manetti F, Santucci A. Bernini A, et al. Among authors: santucci a. Comput Biol Chem. 2017 Oct;70:133-141. doi: 10.1016/j.compbiolchem.2017.08.008. Epub 2017 Aug 25. Comput Biol Chem. 2017. PMID: 28869836
A new integrated and interactive tool applicable to inborn errors of metabolism: Application to alkaptonuria.
Spiga O, Cicaloni V, Zatkova A, Millucci L, Bernardini G, Bernini A, Marzocchi B, Bianchini M, Zugarini A, Rossi A, Zazzeri M, Trezza A, Frediani B, Ranganath L, Braconi D, Santucci A. Spiga O, et al. Among authors: santucci a. Comput Biol Med. 2018 Dec 1;103:1-7. doi: 10.1016/j.compbiomed.2018.10.002. Epub 2018 Oct 5. Comput Biol Med. 2018. PMID: 30316064
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.
Ascher DB, Spiga O, Sekelska M, Pires DEV, Bernini A, Tiezzi M, Kralovicova J, Borovska I, Soltysova A, Olsson B, Galderisi S, Cicaloni V, Ranganath L, Santucci A, Zatkova A. Ascher DB, et al. Among authors: santucci a. Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
Structural investigation of Rett-inducing MeCP2 mutations.
Spiga O, Gardini S, Rossi N, Cicaloni V, Pettini F, Niccolai N, Santucci A. Spiga O, et al. Among authors: santucci a. Genes Dis. 2018 Oct 5;6(1):31-34. doi: 10.1016/j.gendis.2018.09.005. eCollection 2019 Mar. Genes Dis. 2018. PMID: 30906830 Free PMC article.
555 results