Charles P Venditti

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy
    Randy J Chandler
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20893, USA
    Mol Ther 18:11-6. 2010
  2. ncbi request reprint Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
    Laura N Venditti
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Pediatrics 112:1005-15. 2003
  3. pmc Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:64. 2007
  4. pmc Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Gene Ther 19:53-60. 2008
  5. pmc Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia
    Randy J Chandler
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Gene Ther 22:477-81. 2011
  6. pmc Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
    Randy J Chandler
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:24. 2007
  7. pmc Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, MD 20892, USA
    Hum Gene Ther 21:1147-54. 2010
  8. pmc Mitochondrial dysfunction in mut methylmalonic acidemia
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    FASEB J 23:1252-61. 2009
  9. pmc Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)
    Randy J Chandler
    Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 107:617-9. 2012
  10. doi request reprint Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
    J Inherit Metab Dis 35:91-102. 2012

Collaborators

Detail Information

Publications19

  1. pmc Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy
    Randy J Chandler
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20893, USA
    Mol Ther 18:11-6. 2010
    ..These experiments provide the first definitive evidence that gene therapy will have clinical utility in the treatment of MMA and support the development of gene therapy for other organic acidemias...
  2. ncbi request reprint Newborn screening by tandem mass spectrometry for medium-chain Acyl-CoA dehydrogenase deficiency: a cost-effectiveness analysis
    Laura N Venditti
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA
    Pediatrics 112:1005-15. 2003
    ....
  3. pmc Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:64. 2007
    ..Current treatment regimens rely on dietary management and, in severely affected patients, liver or combined liver-kidney transplantation. For undetermined reasons, transplantation does not correct the biochemical phenotype...
  4. pmc Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Gene Ther 19:53-60. 2008
    ....
  5. pmc Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia
    Randy J Chandler
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Gene Ther 22:477-81. 2011
    ..These experiments demonstrate a gene transfer approach using AAV8 that might be used as a treatment for PA, a devastating and often lethal disorder desperately in need of new therapeutic options...
  6. pmc Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes
    Randy J Chandler
    National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    BMC Med Genet 8:24. 2007
    ....
  7. pmc Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health Bethesda, MD 20892, USA
    Hum Gene Ther 21:1147-54. 2010
    ....
  8. pmc Mitochondrial dysfunction in mut methylmalonic acidemia
    Randy J Chandler
    Genetic Diseases Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    FASEB J 23:1252-61. 2009
    ....
  9. pmc Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)
    Randy J Chandler
    Organic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Mol Genet Metab 107:617-9. 2012
    ....
  10. doi request reprint Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
    J Inherit Metab Dis 35:91-102. 2012
    ..This article reviews the biochemistry, clinical presentations, genotype-phenotype correlations, diagnosis and management of cblC disease...
  11. pmc Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia
    Gavin E Murphy
    Laboratory of Cell Biology, Center for Cancer Research, National Cancer Institute, NIH, Bethesda, MD 20892, USA
    J Struct Biol 171:125-32. 2010
    ....
  12. pmc Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria
    Jennifer L Sloan
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 43:883-6. 2011
    ....
  13. pmc Neurocognitive phenotype of isolated methylmalonic acidemia
    Colin J O'Shea
    National Institute of Mental Health, National Institutes of Health, Building 49 Room 4A18 Bethesda, MD 20892 4472, USA
    Pediatrics 129:e1541-51. 2012
    ..Methylmalonic acidemia (MMA) is a metabolic disorder with a poorly defined long-term neurocognitive phenotype. We studied the neuropsychological outcomes of patients and examined clinical covariates that influenced cognition...
  14. pmc Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia
    Irini Manoli
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health NIH, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 110:13552-7. 2013
    ....
  15. pmc Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism
    Randy J Chandler
    Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Mol Genet Metab 89:64-73. 2006
    ..elegans RNAi and deletion mutants...
  16. doi request reprint Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels
    Roberto Buccafusca
    Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, USA
    Mol Genet Metab 95:81-95. 2008
    ..In conclusion, in neonatal brain tissue, Mrps6 gene expression may not be contingent on function of its embedded Slc5a3 gene, while inositide deficiency may not be the mechanism of lethal apnea in null Slc5a3 mice...
  17. doi request reprint Renal growth in isolated methylmalonic acidemia
    Paul S Kruszka
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
    Genet Med 15:990-6. 2013
    ..We sought to predict renal growth based on clinical and metabolic parameters in patients with isolated methylmalonic acidemia, a group of disorders associated with chronic kidney disease...
  18. pmc Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations
    Natalie S Hauser
    Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda MD, USA
    Am J Clin Nutr 93:47-56. 2011
    ..Isolated methylmalonic acidemia (MMA) is managed by dietary protein restriction and medical food supplementation. Resting energy expenditure (REE) can be depressed in affected individuals for undefined reasons...
  19. pmc Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes
    Nuria Carrillo-Carrasco
    Organic Acid Research Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 4A18, Bethesda, MD 20892, USA
    J Inherit Metab Dis 35:103-14. 2012
    ..The following article reviews the current knowledge on the complications, pathophysiology, and outcome of cblC disease in an effort to better guide clinical practice and future therapeutic trials...