STUDI 1980 Laurea in Scienze Biologiche, Università degli Studi di Roma "La Sapienza", con votazione 110/110 e lode 1992 Dottorato in Genetica Medica, Università degli Studi di Roma "La Sapienza", 1993 Specializzazione in Genetica Medica, Università degli Studi di Roma "La Sapienza", con votazione 70/70 e lode
POST DOC TRAINING 1987 Borsa di studio presso Galton Lab. (University College, London, U.K.). 1991-92 Borsa di studio della EEC nell'ambito di "Human Genome Analysis Program" presso MRC Human Biochemical Genetic Unit (University College, London, U.K.) 2001 CNR Short Term mobility fellowship presso OHSU (Portland, OR, USA).
OCCUPAZIONI 1994 Ricercatore presso l'Università Tor Vergata, Roma 2002 Professore Associato II fascia presso l'Università Tor Vergata, Roma, SSD I05 (ex BIO/18)
LINEE DI RICERCA Ricerche sulla variabilità genetica umana rivelata dai polimorfismi del DNA. Studi popolazionistici ed evolutivi del cromosoma Y umano. Studi di mappatura e linkage di malattie genetiche mediante marcatori di DNA altamente polimorfici. Mappatura fisica del genoma umano. Mappatura e clonaggio del gene SSADH. Caratterizzazione delle varianti patologiche responsabili della deficienza dell’enzima SSADH. Analisi della correlazione genotipo/fenotipo in SSADH e altri geni correlati al catabolismo del GABA.
PUBBLICAZIONI RECENTI 1) Ciminelli BM, Menduti G, Benussi L, Ghidoni R, Binetti G, Squitti R, Rongioletti M, Nica S, Novelletto A, Rossi L, Malaspina P. (2020). Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease. J Alzheimers Dis. 77:301-311 doi: 10.3233/JAD-200429. PMID: 32804142
2) Menduti G, Vitaliti A, Capo CR, Lettieri-Barbato D, Aquilano K, Malaspina P, Rossi L (2020). SSADH variants increase susceptibility of U87 cells to mitochondrial pro-oxidant insult. Int J Mol Sci 21:4374. doi: 10.3390 3) Viviani A, Colangelo L, Ciminelli BM, Novelletto A, Sonato C, Occhiuto M, Cipriani C, Diacinti D, De Martino V, Gianni W, Pepe J, Minisola S, Malaspina P. (2023). Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism. Endocrine. doi: 10.1007/s12020-023-03476-7. PMID: 37651007
3) Perta N, Torrieri Di Tullio L, Cugini E, Fattibene P, Rapanotti MC, Borromeo I, Forni C, Malaspina P, Cacciamani T, Di Marino D, Rossi L, De Luca A. (2023). Hydroxytyrosol counteracts triple negative breast cancer cells dissemination via its copper complexing properties. Biology (Basel), 12(11) [10.3390/biology12111437].
4) Latzer IT, Bertoldi M, Blau N, Di Bacco ML, Elsea SH, García-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HCH, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. (2024). Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 4;142(1):108363. doi: 10.1016/j.ymgme.2024.108363.
EDUCATION 1980 Degree in Biological Sciences (cum laude), University "La Sapienza", Rome. 1992 PhD in Medical Genetics, University "La Sapienza" Rome. 1993 Degree of Specialization in Medical Genetics (cum laude), University "La Sapienza" Rome.
POSITIONS 2002 to present Associate Professor of Genetics, Department of Biology, University “Tor Vergata”, Rome, Italy. 1994-2001 Assistant Professor of Genetics, Department of Biology, University “Tor Vergata”, Rome, Italy. 1989-1992 Post-Doc fellow, Department of Biology, University “Tor Vergata”, Rome, Italy. 1985-1989 Ph.D. student, Department of Biology, University “Tor Vergata”, Rome, Italy 1983-1985 Research fellow, Department of Biology and Genetics, University of Naples, Italy 1976-1980 Student in Biological Sciences, University “La Sapienza” Rome, Italy.
DOCTORAL AND POST-DOCTORAL TRAINING 1987 Honorary research assistant, Galton Lab. (University College, London, U.K.). 1991-92 Research fellow, MRC Human Biochemical Genetic Unit (University College, London, U.K.). 2001 CNR Short Term mobility fellowship at OHSU (Portland, OR, USA)
HONORS 2001 CNR Short term mobility fellowship with the project “Molecular characterization of 4-idroxybutyric aciduria patients” at Dept. of Molecular and Medical Genetics, OHSU, Portland, OR, USA. 1991-1992 Bursary issued by EEC in the “Human Genome Analysis Program”
FIELDS OF INTEREST Research on human genetic variability revealed by DNA polymorphisms. Population and evolutionary studies of the human Y chromosome. Mapping and linkage studies of genetic diseases using highly polymorphic DNA markers. Physical mapping of the human genome. Mapping and cloning of the SSADH gene. Characterization of the pathological variants responsible for the deficiency of the SSADH enzyme. Analysis of genotype/phenotype correlation in SSADH and other genes related to GABA catabolism.
RECENT PUBLISHED PAPERS 1) Ciminelli BM, Menduti G, Benussi L, Ghidoni R, Binetti G, Squitti R, Rongioletti M, Nica S, Novelletto A, Rossi L, Malaspina P. (2020). Polymorphic Genetic Markers of the GABA Catabolism Pathway in Alzheimer's Disease. J Alzheimers Dis. 77:301-311 doi: 10.3233/JAD-200429. PMID: 32804142
2) Menduti G, Vitaliti A, Capo CR, Lettieri-Barbato D, Aquilano K, Malaspina P, Rossi L (2020). SSADH variants increase susceptibility of U87 cells to mitochondrial pro-oxidant insult. Int J Mol Sci 21:4374. doi: 10.3390 3) Viviani A, Colangelo L, Ciminelli BM, Novelletto A, Sonato C, Occhiuto M, Cipriani C, Diacinti D, De Martino V, Gianni W, Pepe J, Minisola S, Malaspina P. (2023). Genetic aspects underlying the normocalcemic and hypercalcemic phenotypes of primary hyperparathyroidism. Endocrine. doi: 10.1007/s12020-023-03476-7. PMID: 37651007
3) Perta N, Torrieri Di Tullio L, Cugini E, Fattibene P, Rapanotti MC, Borromeo I, Forni C, Malaspina P, Cacciamani T, Di Marino D, Rossi L, De Luca A. (2023). Hydroxytyrosol counteracts triple negative breast cancer cells dissemination via its copper complexing properties. Biology (Basel), 12(11) [10.3390/biology12111437].
4) Latzer IT, Bertoldi M, Blau N, Di Bacco ML, Elsea SH, García-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Juliá-Palacios N, Knerr I, Lee HCH, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB, Pearl PL. (2024). Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency. Mol Genet Metab. 4;142(1):108363. doi: 10.1016/j.ymgme.2024.108363.