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A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Maguolo A, Rodella G, Giorgetti A, Nicolodi M, Ribeiro R, Dianin A, Cantalupo G, Monge I, Carcereri S, De Bernardi ML, Delledonne M, Pasini A, Campostrini N, Ion Popa F, Piacentini G, Teofoli F, Vincenzi M, Camilot M, Bordugo A. Maguolo A, et al. Among authors: giorgetti a. Genes (Basel). 2022 Jan 26;13(2):233. doi: 10.3390/genes13020233. Genes (Basel). 2022. PMID: 35205278 Free PMC article.
Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.
Badar S, Busti F, Ferrarini A, Xumerle L, Bozzini P, Capelli P, Pozzi-Mucelli R, Campostrini N, De Matteis G, Marin Vargas S, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Badar S, et al. Among authors: giorgetti a. Am J Hematol. 2016 Jun;91(4):420-5. doi: 10.1002/ajh.24304. Am J Hematol. 2016. PMID: 26799139 Free article.
Identification of new BMP6 pro-peptide mutations in patients with iron overload.
Piubelli C, Castagna A, Marchi G, Rizzi M, Busti F, Badar S, Marchetti M, De Gobbi M, Roetto A, Xumerle L, Suku E, Giorgetti A, Delledonne M, Olivieri O, Girelli D. Piubelli C, et al. Among authors: giorgetti a. Am J Hematol. 2017 Jun;92(6):562-568. doi: 10.1002/ajh.24730. Epub 2017 Apr 29. Am J Hematol. 2017. PMID: 28335084 Free article.
GABAA receptor family: overview on structural characterization.
Amundarain MJ, Ribeiro RP, Costabel MD, Giorgetti A. Amundarain MJ, et al. Among authors: giorgetti a. Future Med Chem. 2019 Feb;11(3):229-245. doi: 10.4155/fmc-2018-0336. Epub 2019 Feb 25. Future Med Chem. 2019. PMID: 30801199 Review.
Structure-function relationships of the disease-linked A218T oxytocin receptor variant.
Meyer M, Jurek B, Alfonso-Prieto M, Ribeiro R, Milenkovic VM, Winter J, Hoffmann P, Wetzel CH, Giorgetti A, Carloni P, Neumann ID. Meyer M, et al. Among authors: giorgetti a. Mol Psychiatry. 2022 Feb;27(2):907-917. doi: 10.1038/s41380-021-01241-8. Epub 2022 Jan 4. Mol Psychiatry. 2022. PMID: 34980886 Free PMC article.
346 results