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The Pharmacogenetics of Cannabis in the Treatment of Chronic Pain.
Poli P, Peruzzi L, Maurizi P, Mencucci A, Scocca A, Carnevale S, Spiga O, Santucci A. Poli P, et al. Among authors: santucci a. Genes (Basel). 2022 Oct 11;13(10):1832. doi: 10.3390/genes13101832. Genes (Basel). 2022. PMID: 36292717 Free PMC article.
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
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.
Interactive alkaptonuria database: investigating clinical data to improve patient care in a rare disease.
Cicaloni V, Spiga O, Dimitri GM, Maiocchi R, Millucci L, Giustarini D, Bernardini G, Bernini A, Marzocchi B, Braconi D, Santucci A. Cicaloni V, et al. Among authors: santucci a. FASEB J. 2019 Nov;33(11):12696-12703. doi: 10.1096/fj.201901529R. Epub 2019 Aug 28. FASEB J. 2019. PMID: 31462106 Free PMC article.
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homogentisate 1,2-dioxygenasegene and consequent accumulation of homogentisic acid (HGA), causing a significant protein oxidation. ...M., M …
Alkaptonuria (AKU) is an ultrarare autosomal recessive disorder (MIM 203500) that is caused byby a complex set of mutations in homoge …
Proteomic profiling reveals mitochondrial alterations in Rett syndrome.
Cicaloni V, Pecorelli A, Tinti L, Rossi M, Benedusi M, Cervellati C, Spiga O, Santucci A, Hayek J, Salvini L, Tinti C, Valacchi G. Cicaloni V, et al. Among authors: santucci a. Free Radic Biol Med. 2020 Aug 1;155:37-48. doi: 10.1016/j.freeradbiomed.2020.05.014. Epub 2020 May 20. Free Radic Biol Med. 2020. PMID: 32445864
AKUImg: A database of cartilage images of Alkaptonuria patients.
Rossi A, Giacomini G, Cicaloni V, Galderisi S, Milella MS, Bernini A, Millucci L, Spiga O, Bianchini M, Santucci A. Rossi A, et al. Among authors: santucci a. Comput Biol Med. 2020 Jul;122:103863. doi: 10.1016/j.compbiomed.2020.103863. Epub 2020 Jun 18. Comput Biol Med. 2020. PMID: 32658739
555 results