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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: galderisi s. 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.
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: galderisi s. 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
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: galderisi s. Comput Biol Med. 2020 Jul;122:103863. doi: 10.1016/j.compbiomed.2020.103863. Epub 2020 Jun 18. Comput Biol Med. 2020. PMID: 32658739
Homogentisic acid induces autophagy alterations leading to chondroptosis in human chondrocytes: Implications in Alkaptonuria.
Galderisi S, Milella MS, Rossi M, Cicaloni V, Rossi R, Giustarini D, Spiga O, Tinti L, Salvini L, Tinti C, Braconi D, Millucci L, Lupetti P, Prischi F, Bernardini G, Santucci A. Galderisi S, et al. Arch Biochem Biophys. 2022 Mar 15;717:109137. doi: 10.1016/j.abb.2022.109137. Epub 2022 Jan 25. Arch Biochem Biophys. 2022. PMID: 35090868
255 results