Fabrizio Barbetti directs the Diabetology and molecular endocrinology IBCIT unit at SPR. In 2005 he got the position of Associate Professor of Clinical Biochemistry and Molecular Biology at the University of Tor Vergata in Rome, and since 2008 he has directed the Laboratory of Molecular Genetics of Monogenic Diabetes and Congenital Hyperinsulinism at the University of Rome Tor Vergata. Fabrizio Barbetti's main research focus is the investigation of the molecular basis of monogenic forms of derangement of glucose metabolism including both monogenic diabetes (MD) and congenital hyperinsulinism (CHI).

 

 

Selected publications

 

Brufani C, Ciampelini C, Grossi A, Fiori R, Fintini D, Tozzi A, Cappa M, Barbetti F. (2009) Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy. Pediatr Diabetes, in press.

 

Brufani C, Tozzi A, Fintini D, Ciampalini P, Grossi A, Fiori R, Kiepe D, Manco M, Schiaffini R, Porzio O, Cappa M, Barbetti F. (2009) Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects. Eur J Endocrinol. Published on line 16 Feb 2009 PMID: 19221173.

 

Delvecchio M, Zecchino C, Faienza MF, Acquafredda A, Barbetti F, Cavallo L. (2009) Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to gluten free diet. Diab Res Clin Pract. Published on line 2 Apr 2009: doi: 10.1016/j.diabres.2009.02.024.

 

Nocerino V, Colombo C, Bonfanti R, Iafusco D, Barbetti F. (2009) Mutations in IAPP and NEUROG33 genes are not a common cause of permanent neonatal/infancy/childhood onset diabetes. Diabetic Med, in press.

 

Baratta R, Rossetti P, Prudente s, Barbetti F, Sudano D, Nigro A, Farina MG, Trischitta V, Frittitta L. (2008) Role of the ENPP1 K121Q polymorphism on glucose homeostasis. Diabetes 57:3360-3364.

 

Bonfanti R, Colombo C, Nocerino V, Massa O, Iafusco D, Viscardi M, Chiumello G, Meschi F, Barbetti F. Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. Diabetes Care. Published on line 2008 Oct 7, PMID 18840.

 

Brufani C, Grossi A, Fintini D, Fiori R, Ubertini G, Colabianchi D, Ciampalini P, Tozzi A, Barbetti F, Cappa M. (2008) Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children. Horm Res 70:349-356.

 

Colombo C, Porzio O, Liu M, Massa O, Vasta M, Salardi S, Beccaria L, Liu M, Arvan P, Monciotti C, Toni S, Pedersen O, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Iafusco D, Barbetti F and the. Early onset diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP). (2008) Seven mutations in the human insulin gene linked to permanent neonatal/infancy onset diabetes mellitus. J Clin Invest 118:2148-2156.

 

Koster JC, Cadario F, Kurata HT, Peruzzi C, Colombo C, Nichols CG, Barbetti F. (2008) The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. J Clin Endocrinol Metab 93:1054-1061

 

Barbetti F. (2007). Diagnosis of neonatal and infancy-onset diabetes. Endocr Dev 11:83-93

 

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F. (2007) An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of DEND (Developmental Delay, Epilepsy, and Neonatal Diabetes). Diabetes 56.328-336

 

Porzio O, Massa O, Cunsolo V, Colombo C, Malaponti M, Bertuzzi F, Hansen T, Johansen A, Pedersen O, Meschi F, Terrinoni A, Melino G, Federici M, Decarlo N, Menicagli M, Campani D, Marchetti P, Ferdaoussi M, Froguel P, Federici G, Vaxillaire M, Barbetti F. (2007) Missense Mutations in TGM2 Gene encoding transglutaminase 2 are associated with familial type 2 diabetes. Hum Mutat 28:1150

 

Sentinelli F, Romeo S, Barbetti F, Berni A, Filippi E, Fanelli M, Fallarino M, Baroni MG. (2006) Search for genetic variants in the p66 shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. BMC Genetics 7:14

 

Simomura K, Girard C, Proks P, Lippiat J, Cerutti F, Lorini R, Gloyn A, Hattersley AT, Barbetti F, Ashcroft FM. (2006) Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Diabetes 55:1705-1712

 

Tonini G, Bizzarri C, Bonfanti R, Vanelli M, Cerutti F, Faleschini E, Meschi F, Prisco F, Ciacco E, Cappa M, Torelli C, Cauvin V, Tumini S, Iafusco D, Barbetti F and the Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology. (2006) Sulphonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 gene. Diabetologia 49:2210-2213

 

Colombo C, Delvecchio M, Zecchino C, Faienza MF, Cavallo L, Barbetti F and the Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. (2005) Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (Kir6.2) mutation. Diabetologia 48:2439-2441

 

Foti D, Chiefari E, Fedele M, Iuliano R, Brunetti L, Paonessa F, Manfioletti G, Barbetti F, Brunetti A, Croce CM, Fusco A, Brunetti A. (2005) Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice. Nat Med 11:765-773

 

Gloyn Al, Odili S, Zelent D, Buettger C, Castleden HAJ, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley C, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM. (2005) Insights into the structure and regulation of glucokinase from a novel mutation (V62M) which causes maturity-onset diabetes of the young. J Biol Chem 280:14105-14113

 

Massa O, Iafusco D, D’Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo GF, Crinò A, Lorini R, Cerutti F, Vanelli M, Barbetti F and the Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology. (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 25:22-27

 

Bernassola F, Federici M, Corazzari M, Terrinoni A, Hribal ML, De Laurenzi V, Ranalli M, Massa O, Sesti G, McLean WHI, Citro G, Barbetti F, Melino G. (2002) Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. FASEB J 16:1371-1378

 

Christesen HBT, Brock Jacobsen B, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F. (2002) The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy. Diabetes 51: 1240-1246

Njolstad PR, Sovik O, Cuesta-Munoz A, Bjorkhaug L, Massa O, Barbetti F, Undlien D, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI. (2001) Neonatal diabetes mellitus due to complete glucokinase deficiency. N Engl J Med 344:1588-1592

 

Hansen L, Fjordvang H, Rasmussen SK, Vestergaard H, Echwald SM, Hansen T, Alessi D, Shenolikar S, Saltiel AR, Barbetti F, Pedersen O. (1999) Mutational analysis of the genes encoding protein kinase B α and β, phosphoinositide dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a genetic study of the insulin stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients. Diabetes 48:403-407