Research Topics
Genomes and Genes | Nicola Brunetti-PierriSummaryAffiliation: Baylor College of Medicine Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Gene therapy for inborn errors of liver metabolism: progress towards clinical applicationsNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Ital J Pediatr 34:2. 2008..This article summarizes the gene transfer strategies being investigated, the pre-clinical data, and the available early clinical results for inborn errors of liver metabolism...- Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutationsNicola Brunetti-Pierri
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Med Genet A 146:1230-3. 2008 - A severe case of dentatorubro-pallidoluysian atrophy (DRPLA) with microcephaly, very early onset of seizures, and cerebral white matter involvementN Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, United States
Neuropediatrics 37:308-11. 2006..The case is notable for the early detection of white matter changes by brain MRI. Neuroradiological findings from the case were compared to those of previously reported patients with disease onset before 10 years of age... - Gray matter heterotopias and brachytelephalangic chondrodysplasia punctata: a complication of hyperemesis gravidarum induced vitamin K deficiency?Nicola Brunetti-Pierri
Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 143:200-4. 2007 - Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent AdFrancesco 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... - MyD88-dependent silencing of transgene expression during the innate and adaptive immune response to helper-dependent adenovirusMasataka Suzuki
Department of Human and Molecular Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Gene Ther 21:325-36. 2010.... - Phenotypic correction of ornithine transcarbamylase deficiency using low dose helper-dependent adenoviral vectorsNicola 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... - Pseudo-hydrodynamic delivery of helper-dependent adenoviral vectors into non-human primates for liver-directed gene therapyNicola Brunetti Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Mol Ther 15:732-40. 2007..Using a low, clinically relevant vector dose, this minimally invasive method results in high-efficiency hepatic transduction with minimal toxicity and stable long-term transgene expression for at least 413 days... - Efficient, long-term hepatic gene transfer using clinically relevant HDAd doses by balloon occlusion catheter delivery in nonhuman primatesNicola Brunetti-Pierri
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Mol Ther 17:327-33. 2009..These results suggest that our minimally invasive method of delivery can significantly improve the vector's therapeutic index and may be a first step toward clinical application of HDAd for liver-directed gene therapy... - Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectorsDavid Dimmock
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Gene Ther 22:483-8. 2011.... - Bioengineered factor IX molecules with increased catalytic activity improve the therapeutic index of gene therapy vectors for hemophilia BNicola 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... - Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutationNicola 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... - Progress towards liver and lung-directed gene therapy with helper-dependent adenoviral vectorsNicola 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... - Clinical consequences of urea cycle enzyme deficiencies and potential links to arginine and nitric oxide metabolismFernando 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.... - Progress towards the clinical application of helper-dependent adenoviral vectors for liver and lung gene therapyNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza T619, Houston, TX 77030, USA
Curr Opin Mol Ther 8:446-54. 2006..Studies highlighting the tremendous potential of these vectors are reviewed, together with some important obstacles that will need to be addressed before clinical utility... - Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Mutat 29:E150-72. 2008.... - 15q13q14 deletions: phenotypic characterization and molecular delineation by comparative genomic hybridizationNicola 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... - GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspectsNicola 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... - Phenylbutyrate therapy for maple syrup urine diseaseNicola 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... - Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairmentNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Eur J Hum Genet 19:102-7. 2011.... - Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalitiesNicola 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... - Improved hepatic transduction, reduced systemic vector dissemination, and long-term transgene expression by delivering helper-dependent adenoviral vectors into the surgically isolated liver of nonhuman primatesNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hum Gene Ther 17:391-404. 2006..Importantly, stable, high levels of transgene expression were obtained for at least 665 days for one baboon and for at least 560 days for two baboons with no evidence of long-term toxicity... - Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosisNicola 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.... - Parkes Weber syndrome occurring in a family with capillary malformationsNicola Brunetti Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Clin Dysmorphol 16:167-71. 2007..These observations reinforce the suggestions that Parkes Weber syndrome and capillary malformations may share a common pathogenetic pathway... - Toll-like receptor 9 triggers an innate immune response to helper-dependent adenoviral vectorsVincenzo Cerullo
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Mol Ther 15:378-85. 2007..The identification of the components of the innate immune response to adenovirus will facilitate the development of combinatorial therapy directed at increasing the maximal tolerated dose of systemically delivered adenoviral vectors... - Inborn errors of metabolism: the flux from Mendelian to complex diseasesBrendan Lanpher
Department of Molecular and Human Genetics, Baylor College of Medicine One Baylor Plaza, Houston, Texas 77030, USA
Nat Rev Genet 7:449-60. 2006..Ultimately, this integration will lead to new diagnostic and therapeutic approaches that are focused on the manipulation of these pathways... - Case report: pathological features of aberrant pancreatic development in congenital hyperinsulinism due to ABCC8 mutationsNicola 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... - Terminal osseous dysplasia with pigmentary defects (TODPD): Follow-up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage regionNicola 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.... - Dilation of the aortic root in mitochondrial disease patientsNicola 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... - Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancyLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hepatology 46:1218-27. 2007..CONCLUSION: We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure... - Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosisNicola 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... - Systemic hypertension in two patients with ASL deficiency: a result of nitric oxide deficiency?Nicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 98:195-7. 2009..The intriguing link between nitric oxide (NO) production and hypertension lead us to hypothesize that the deficiency of endogenously synthesized arginine caused by ASL deficiency is responsible for the increased blood pressure... - von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor developmentNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Am J Med Genet A 126:299-302. 2004..Among the patients reported so far our case appears to represent the mildest phenotype. Despite the neonatal complications and meningoencephalocele, the patient currently has normal psychomotor development... - Gene therapy for inborn errors of liver metabolismNicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Mol Genet Metab 86:13-24. 2005..As with any therapy, it will be the balance of this index and the disease natural history which will determine the future of clinical studies and their outcomes... - Generalized metabolic bone disease in Neurofibromatosis type INicola Brunetti-Pierri
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Room 635E, Houston, TX 77030, USA
Mol Genet Metab 94:105-11. 2008..Early identification of patients with osteoporosis may permit more timely and aggressive treatments to prevent the likely substantial morbidity associated with increased fracture risk later in life... - Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome regionJonathan 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... - New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?Daniele De Brasi
Am J Med Genet A 117:194-5. 2003 - Premature thelarche in Coffin-Siris syndromeNicola Brunetti-Pierri
Am J Med Genet A 121:174-6. 2003 - Cervical spine stenosis and possible vitamin K deficiency embryopathy in an unusual case of chondrodysplasia punctata and an updated classification systemDelaina D Eash
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA
Am J Med Genet A 122:70-5. 2003..The severity of the phenotype in this case may have been influenced by these maternal factors particularly vitamin K deficiency... - Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutationsMargherita Milone
Department of Neurology, Mayo Clinic, Rochester, MN, USA
Neuromuscul Disord 18:626-32. 2008..Due to these diagnostic difficulties, POLG-related syndromes are definitively diagnosed based on the presence of deleterious mutations in the POLG gene... - Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturaseNicola Brunetti-Pierri
Department of Pediatrics, Federico II University, Naples, Italy
Am J Hum Genet 71:952-8. 2002..Sequence analysis of the SC5D gene in the patient's DNA, showing the presence of two missense mutations (R29Q and G211D), confirmed that the patient is affected by a novel defect of cholesterol biosynthesis... - Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHDFortunato Lonardo
U O C di Genetica Medica, A O R N Gaetano Rummo, S S di Citogenetica Medica e Genetica Molecolare, Via dell Angelo, 1, I 82100 Benevento, Italy
Eur J Med Genet 50:301-8. 2007..5 Mb) and refined the breakpoints. We discuss the phenotype of our patient in relationship to the deleted segment and the possibility of mental retardation and ADHD genes in the region... - X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variabilityNicola Brunetti-Pierri
Department of Pediatrics, Federico II University, Naples, Italy
Am J Med Genet A 117:164-8. 2003..One patient showed an insertion (T616ins). In three patients we found deletions of the ARSE gene: in one the deletion involved only the 3' end of the gene, while in two the ARSE gene was completely deleted...
Research Grants
- HDAd-mediated gene therapy for hemophilia BNicola Brunetti Pierri; Fiscal Year: 2007....