List of works - Fabrizio Barbetti

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

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

Biosensor analysis of anti-citrullinated protein/peptide antibody affinity

scientific article published on 10 August 2014

Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children

scientific article

Case Report: When an Induced Illness Looks Like a Rare Disease

scientific article

Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease

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

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment

scientific article published on 04 August 2015

Evaluation of new immunological targets in neuromyelitis optica

scientific article published on 28 November 2012

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

scientific article published on 30 January 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

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

scientific article

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.

scientific article

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

IGF2 methylation is associated with lipid profile in obese children

scientific article published on 15 June 2013

INS-gene mutations: from genetics and beta cell biology to clinical disease

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

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

scientific article published on 22 February 2012

Increased OB gene expression leads to elevated plasma leptin concentrations in patients with chronic primary hyperinsulinemia.

scientific article

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

scientific article

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

scientific article published on 7 October 2008

Insulin therapy in neonatal diabetes mellitus: a review of the literature

scientific article published on 13 April 2017

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

scientific article published in January 2005

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

scientific article

Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice

scientific article published on 29 May 2005

Long-Term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes

scientific article published on 12 November 2020

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

scientific journal 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

Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene

scientific article published on 01 March 2011

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

Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

scientific article

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

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

Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport

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

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

scientific article published in June 2006

Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes

scientific article published on 01 June 2009

Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans

scientific article published on June 1, 1992

Neonatal diabetes mellitus due to complete glucokinase deficiency

scientific article published in May 2001

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

No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years

Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test

scientific article published on 9 October 2009

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

scientific article

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

scientific article

Permanent diabetes mellitus in the first year of life

scientific article published on 03 May 2002

Pre-diabetes in Italian obese children and youngsters

scientific article published on 7 June 2011

Prevalence of elevated 1-h plasma glucose and its associations in obese youth.

scientific article published on 29 April 2016

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

Role of proline 193 in the insulin receptor post-translational processing

scientific article published on 01 April 1999

Role of the ENPP1 K121Q polymorphism in glucose homeostasis.

scientific article published on 5 September 2008

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

scientific article published in September 2002

Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease

scientific article

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

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

scientific article published on June 2008

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.

scientific article published on 7 February 2018

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

scientific article published on 16 February 2009

Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young.

scientific article published in June 2001

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

Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.

scientific article published in February 2016

Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet

scientific article

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

Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: impact of access to genetic testing

scientific article published on 20 January 2015

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

scientific article published in July 2010

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

The genetic abnormality in the beta cell determines the response to an oral glucose load

scientific article published in March 2002

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

scientific article published in April 2002

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

scientific article published on 26 July 2012

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

scientific article

List of works by Fabrizio Barbetti

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

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

Biosensor analysis of anti-citrullinated protein/peptide antibody affinity

Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children

Case Report: When an Induced Illness Looks Like a Rare Disease

Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease

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

Diabetes associated with dominant insulin gene mutations: outcome of 24-month, sensor-augmented insulin pump treatment

Evaluation of new immunological targets in neuromyelitis optica

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

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.

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

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.

Glyburide ameliorates motor coordination and glucose homeostasis in a child with diabetes associated with the KCNJ11/S225T, del226-232 mutation

IGF2 methylation is associated with lipid profile in obese children

INS-gene mutations: from genetics and beta cell biology to clinical disease

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

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

Increased OB gene expression leads to elevated plasma leptin concentrations in patients with chronic primary hyperinsulinemia.

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young

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

Insulin therapy in neonatal diabetes mellitus: a review of the literature

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes

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

Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice

Long-Term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes

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

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

Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene

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

Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births

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

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

Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport

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

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

Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes

Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans

Neonatal diabetes mellitus due to complete glucokinase deficiency

No beta cell desensitisation after a median of 68 months on glibenclamide therapy in patients with KCNJ11-associated permanent neonatal diabetes

No sign of proliferative retinopathy in 15 patients with permanent neonatal diabetes with a median diabetes duration of 24 years

Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test

Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

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

Permanent diabetes mellitus in the first year of life

Pre-diabetes in Italian obese children and youngsters

Prevalence of elevated 1-h plasma glucose and its associations in obese youth.

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

Role of proline 193 in the insulin receptor post-translational processing

Role of the ENPP1 K121Q polymorphism in glucose homeostasis.

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

Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease

Serological Proteome Analysis (SERPA) as a tool for the identification of new candidate autoantigens in type 1 diabetes

Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.

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

Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young.

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

Successful treatment of young infants presenting neonatal diabetes mellitus with continuous subcutaneous insulin infusion before genetic diagnosis.

Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet

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

Survey on etiological diagnosis of diabetes in 1244 Italian diabetic children and adolescents: impact of access to genetic testing

TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy

The genetic abnormality in the beta cell determines the response to an oral glucose load

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy

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

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