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List of works by Fabrizio Barbetti

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Neonatal diabetes mellitus due to complete glucokinase deficiency

scientific article published in May 2001
Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice

scientific article published on 29 May 2005
The genetic abnormality in the beta cell determines the response to an oral glucose load

scientific article published in March 2002
Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

scientific article published on June 2008
The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

scientific article published in April 2002
KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

scientific article published in January 2005
Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport

scientific article
An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes

scientific article published in February 2007
Permanent diabetes mellitus in the first year of life

scientific article published on 03 May 2002
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

scientific article
Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient

scientific article published in September 2002
Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

scientific article
Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families

scientific article published on 29 June 2009
The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

scientific article
Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

scientific article
Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

scientific journal article
Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies

scientific article published on 7 October 2008
INS-gene mutations: from genetics and beta cell biology to clinical disease

scientific article
Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects

scientific article published in June 2006
Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy

scientific article
Permanent diabetes during the first year of life: multiple gene screening in 54 patients

scientific article
Impaired cleavage of preproinsulin signal peptide linked to autosomal-dominant diabetes

scientific article published on 22 February 2012
Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene

article
Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects

scientific article published on 16 February 2009
Role of the ENPP1 K121Q polymorphism in glucose homeostasis.

scientific article published on 5 September 2008
Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement

scientific article
Monogenic Diabetes Accounts for 6.3% of Cases Referred to 15 Italian Pediatric Diabetes Centers During 2007 to 2012.

scientific article published on 16 February 2017
No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes

scientific article published on 07 August 2011
Serological Proteome Analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes

scientific article published on 14 March 2013
Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians

scientific article published on March 2000
Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

scientific article
Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

scientific article
Six cases with severe insulin resistance (SIR) associated with mutations of insulin receptor: Is a Bartter-like syndrome a feature of congenital SIR?

scientific article
IGF2 methylation is associated with lipid profile in obese children

scientific article published on 15 June 2013
Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test

scientific article published on 9 October 2009
Increased OB gene expression leads to elevated plasma leptin concentrations in patients with chronic primary hyperinsulinemia.

scientific article
Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management

scientific article
Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital

scientific article
Identification of candidate children for maturity-onset diabetes of the young type 2 (MODY2) gene testing: a seven-item clinical flowchart (7-iF).

scientific article
Thyroid function tests in obese prepubertal children: correlations with insulin sensitivity and body fat distribution

scientific article published on 26 July 2012
Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation

scientific article published on 14 June 2012
TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

scientific article published in July 2010
Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.

scientific article published in February 2016
Insulin therapy in neonatal diabetes mellitus: a review of the literature

scientific article published on 13 April 2017
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans

scientific article published on June 1, 1992
Biosensor analysis of anti-citrullinated protein/peptide antibody affinity

scientific article published on 10 August 2014
Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.

scientific article
Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search f

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage

scientific article
A possible role of transglutaminase 2 in the nucleus of INS-1E and of cells of human pancreatic islets

scientific article published on 27 November 2013

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