Randy J Chandler

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  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 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
  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. 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

Collaborators

Detail Information

Publications13

  1. 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
    ....
  2. 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...
  3. 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
    ....
  4. 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...
  5. 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...
  6. 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
    ....
  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 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...
  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. 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
    ....
  11. 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...
  12. 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
    Proc Natl Acad Sci U S A 110:13552-7. 2013
    ....
  13. 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
    ....