Fabrizio Barbetti

Summary

Country: Italy

Publications

  1. ncbi Diagnosis of neonatal and infancy-onset diabetes
    Fabrizio Barbetti
    San Raffaele Biomedical Park Foundation, Laboratory of Molecular Endocrinology and Metabolism, Rome, Italy
    Endocr Dev 11:83-93. 2007
  2. doi Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test
    Claudia Brufani
    Bambino Gesù Children s Hospital Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy
    J Clin Endocrinol Metab 94:4448-52. 2009
  3. doi Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy
    Claudia Brufani
    Endocrinology and Diabetes Unit, Department of Paediatric Medicine, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Pediatr Diabetes 11:47-54. 2010
  4. doi Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects
    Claudia Brufani
    Endocrinology and Diabetes Unit, Department of Paediatric Medicine, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, 00165 Rome, Italy
    Eur J Endocrinol 160:769-75. 2009
  5. ncbi Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children
    Claudia Brufani
    Endocrinology and Diabetes Unit, Department of Paediatric Medicine, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Horm Res 70:349-56. 2008
  6. pmc Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
    Carlo Colombo
    Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesu Children s Hospital, Scientific Institute and Department of Internal Medicine, University of Tor Vergata, Rome, Italy
    J Clin Invest 118:2148-56. 2008
  7. ncbi KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
    Ornella Massa
    Laboratory of Molecular Endocrinology and Metabolism, The Diabetes Unit, and the Scientific Directorate, Bambino Gesu Pediatric Hospital, Scientific Institute IRCCS, Rome, Italy
    Hum Mutat 25:22-7. 2005
  8. doi Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene
    Fabrizio Barbetti
    Bambino Gesu Pediatric Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Mol Endocrinol 23:1983-9. 2009
  9. pmc The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
    Joseph C Koster
    Washington University School of Medicine, Department of Cell Biology and Physiology, Box 8228, St Louis, MO 63110, USA
    J Clin Endocrinol Metab 93:1054-61. 2008
  10. ncbi Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
    Kenju Shimomura
    University Laboratory of Physiology, Oxford University, Parks Road, Oxford OX1 3PT, UK
    Diabetes 55:1705-12. 2006

Collaborators

Detail Information

Publications12

  1. ncbi Diagnosis of neonatal and infancy-onset diabetes
    Fabrizio Barbetti
    San Raffaele Biomedical Park Foundation, Laboratory of Molecular Endocrinology and Metabolism, Rome, Italy
    Endocr Dev 11:83-93. 2007
    ..I would suggest monogenic diabetes of infancy, which includes both the permanent and the transient types, irrespectively of the mechanism of disease...
  2. doi Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test
    Claudia Brufani
    Bambino Gesù Children s Hospital Istituto di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy
    J Clin Endocrinol Metab 94:4448-52. 2009
    ..We sought to investigate the influence of birth weight on the relation between insulin sensitivity and beta-cell function in obese children...
  3. doi Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy
    Claudia Brufani
    Endocrinology and Diabetes Unit, Department of Paediatric Medicine, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Pediatr Diabetes 11:47-54. 2010
    ..Childhood obesity is epidemic in developed countries and is accompanied by an increase in the prevalence of type 2 diabetes (T2DM)...
  4. doi Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects
    Claudia Brufani
    Endocrinology and Diabetes Unit, Department of Paediatric Medicine, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, 00165 Rome, Italy
    Eur J Endocrinol 160:769-75. 2009
    ..Factors that independently from T or age influence IS are central fat depot in girls, lean amount in boys, and total fat mass in both sexes...
  5. ncbi Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children
    Claudia Brufani
    Endocrinology and Diabetes Unit, Department of Paediatric Medicine, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Horm Res 70:349-56. 2008
    ..To evaluate if insulin resistance (IR) and metabolic syndrome (MS) were associated with poor cardiovascular fitness in very obese prepubertal Italian subjects...
  6. pmc Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
    Carlo Colombo
    Laboratory of Molecular Endocrinology and Metabolism, Bambino Gesu Children s Hospital, Scientific Institute and Department of Internal Medicine, University of Tor Vergata, Rome, Italy
    J Clin Invest 118:2148-56. 2008
    ..Similarly transfected INS-1E insulinoma cells had diminished viability compared with those expressing WT proinsulin. In conclusion, we find that mutations in the insulin gene that promote proinsulin misfolding may cause PNDM...
  7. ncbi KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes
    Ornella Massa
    Laboratory of Molecular Endocrinology and Metabolism, The Diabetes Unit, and the Scientific Directorate, Bambino Gesu Pediatric Hospital, Scientific Institute IRCCS, Rome, Italy
    Hum Mutat 25:22-7. 2005
    ..g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion between patients with early-onset, autoimmune type 1 diabetes...
  8. doi Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene
    Fabrizio Barbetti
    Bambino Gesu Pediatric Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Mol Endocrinol 23:1983-9. 2009
    ..In summary, we identified a novel activating GCK mutation that although being associated with severe neonatal hypoglycemia is characterized by the mildest activation of the glucokinase enzyme of all previously reported...
  9. pmc The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy
    Joseph C Koster
    Washington University School of Medicine, Department of Cell Biology and Physiology, Box 8228, St Louis, MO 63110, USA
    J Clin Endocrinol Metab 93:1054-61. 2008
    ..2 mutations. There are two reports of improved neurological features in SU-treated DEND patients but no report of such improvement in adulthood...
  10. ncbi Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects
    Kenju Shimomura
    University Laboratory of Physiology, Oxford University, Parks Road, Oxford OX1 3PT, UK
    Diabetes 55:1705-12. 2006
    ..2. The sulfonylurea tolbutamide blocked heterozygous R50Q (89%) and R50P (84%) channels only slightly less than wild-type channels (98%), suggesting that sulfonylurea therapy may be of benefit for patients with either mutation...
  11. pmc Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease
    Federica Sentinelli
    Department of Medical Sciences, Endocrinology, University of Cagliari, Cagliari, Italy
    BMC Genet 7:14. 2006
    ..Thus, p66Shc may play a pivotal role in controlling oxidative stress and vascular dysfunction in vivo...
  12. ncbi The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy
    Henrik B T Christesen
    Department of Pediatrics, Odense University Hospital, Odense, Denmark
    Diabetes 51:1240-6. 2002
    ..Mathematical modeling predicted a markedly lowered GSIR threshold of 1.5 mmol/l. The theoretical and practical implications are manifold and significant...