Nicola Brunetti-Pierri

Summary

Affiliation: Telethon Institute of Genetics and Medicine
Country: Italy

Publications

  1. pmc Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:102-7. 2011
  2. pmc Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad
    Francesco Vetrini
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 18:1339-45. 2010
  3. pmc MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus
    Masataka Suzuki
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 21:325-36. 2010
  4. pmc Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 20:1863-70. 2012
  5. pmc Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B
    Nicola Brunetti-Pierri
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030 77030, USA
    Hum Gene Ther 20:479-85. 2009
  6. doi request reprint GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 94:391-6. 2008
  7. pmc Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 24:761-5. 2013
  8. ncbi request reprint Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Children s Nutritional Research Center, Baylor College of Medicine, Houston, TX 77030, USA
    J Nutr 134:2775S-2782S; discussion 2796S-2797S. 2004
  9. doi request reprint Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 146:2804-9. 2008
  10. pmc Phenylbutyrate therapy for maple syrup urine disease
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 20:631-40. 2011

Detail Information

Publications27

  1. pmc Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Eur J Hum Genet 19:102-7. 2011
    ....
  2. pmc Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad
    Francesco Vetrini
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 18:1339-45. 2010
    ..These results suggest that VIP can improve the therapeutic index of HDAd by increasing hepatocyte transduction efficiency while reducing cytokine and chemokine expression following intravascular delivery of HDAd...
  3. pmc MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirus
    Masataka Suzuki
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 21:325-36. 2010
    ....
  4. pmc Balloon catheter delivery of helper-dependent adenoviral vector results in sustained, therapeutic hFIX expression in rhesus macaques
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Mol Ther 20:1863-70. 2012
    ..Five of six animals developed inhibitors to hFIX. These results provide important information in assessing the clinical utility of HDAd for hemophilia B gene therapy...
  5. pmc Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia B
    Nicola Brunetti-Pierri
    Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030 77030, USA
    Hum Gene Ther 20:479-85. 2009
    ..Furthermore, these variants may also be valuable for recombinant FIX protein replacement therapy...
  6. doi request reprint GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 94:391-6. 2008
    ..This review gives an overview of the clinical and molecular findings in patients with GM(1) gangliosidosis. Furthermore, it describes therapeutic approaches which are currently under investigation in animal models of the disease...
  7. pmc Transgene expression up to 7 years in nonhuman primates following hepatic transduction with helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 24:761-5. 2013
    ..3-111-fold above baseline values. These results will provide important information for a more informed risk:benefit assessment before clinical application of HDAd...
  8. ncbi request reprint Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolism
    Fernando Scaglia
    Department of Molecular and Human Genetics, Children s Nutritional Research Center, Baylor College of Medicine, Houston, TX 77030, USA
    J Nutr 134:2775S-2782S; discussion 2796S-2797S. 2004
    ....
  9. doi request reprint Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 146:2804-9. 2008
    ..The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome...
  10. pmc Phenylbutyrate therapy for maple syrup urine disease
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Hum Mol Genet 20:631-40. 2011
    ..Phenylbutyrate treatment may be a valuable treatment for reducing the plasma levels of neurotoxic BCAA and their corresponding BCKA in a subset of MSUD patients and studies of its long-term efficacy are indicated...
  11. ncbi request reprint Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Avenue, Houston, TX 77030, USA
    Curr Gene Ther 9:329-40. 2009
    ..Progress towards liver and lung directed gene therapy with HDAd as well as the current obstacles facing human applications and possible strategies to overcome these obstacles are discussed...
  12. doi request reprint WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype
    Carlos A Bacino
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 158:2917-24. 2012
    ..Detailed genotype-phenotype information is provided as well as discussion of previously reported cases...
  13. ncbi request reprint Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
    Jonathan S Berg
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Genet Med 9:427-41. 2007
    ..23), including two children who inherited the microduplication from one of their parents, to more fully characterize this emerging microduplication syndrome...
  14. pmc Nitric-oxide supplementation for treatment of long-term complications in argininosuccinic aciduria
    Sandesh C S Nagamani
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Am J Hum Genet 90:836-46. 2012
    ..Hence, NO supplementation should be investigated for the long-term treatment of this condition...
  15. ncbi request reprint Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hepatology 46:1218-27. 2007
    ..We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction...
  16. doi request reprint Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    J Child Neurol 23:73-8. 2008
    ..Histologically, no significant alterations were found in axons, but there was evidence of redundant and inappropriately folded myelin, which is a feature attributed to disturbed axon-glial interactions...
  17. pmc Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Nat Genet 40:1466-71. 2008
    ..These phenotypes are subject to incomplete penetrance and variable expressivity...
  18. doi request reprint 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridization
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children s Hospital, Houston, Texas 77030, USA
    Am J Med Genet A 146:1933-41. 2008
    ..The potential role of the genes within the deleted region in the pathogenesis of these various phenotypic abnormalities is discussed...
  19. pmc Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    Am J Med Genet A 152:1825-31. 2010
    ....
  20. pmc Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
    David Dimmock
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Gene Ther 22:483-8. 2011
    ....
  21. pmc Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mutat 29:E150-72. 2008
    ....
  22. doi request reprint Dilation of the aortic root in mitochondrial disease patients
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    Mol Genet Metab 103:167-70. 2011
    ..The mechanism(s) involved in the pathogenesis of this complication are unknown and may be potentially implicated also in the pathogenesis of other more common etiologies of aortic aneurysmal disease...
  23. pmc Assessment of bone mineral status in children with Marfan syndrome
    Monica Grover
    Department of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Houston, Texas 77030 3411, USA
    Am J Med Genet A 158:2221-4. 2012
    ..Further, larger longitudinal studies are required to evaluate the natural history, incidence of fractures, and effects of pharmacological therapy...
  24. doi request reprint 30-year follow-up of a patient with classic citrullinemia
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Mol Genet Metab 106:248-50. 2012
    ....
  25. ncbi request reprint Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutations
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, and Department of Pathology, Texas Children s Hospital, 6621 Fannin St MC2 2261, Houston, TX 77030, USA
    Ann Clin Lab Sci 38:386-9. 2008
    ..This case suggests that abnormal function of ABCC8 may result in aberrant pancreatic development...
  26. pmc Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectors
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    J Gene Med 10:890-6. 2008
    ..Strategies for reducing the dose necessary for disease correction are highly desirable because HDAd acute toxicity is clearly dose-dependent...
  27. ncbi request reprint Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis
    Nicola Brunetti-Pierri
    Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
    J Inherit Metab Dis 30:823. 2007
    ....