Christina A. Pacak

Publications

• Functional Consequences of PDK4 Deficiency in Doberman Pinscher Fibroblasts
  Scientific Reports. Mar, 2020  |   Pubmed ID: 32127618
• Noninvasive Tracking of Implanted Cells: Superparamagnetic Iron Oxide Nanoparticles As a Long-Term, Multimodal Imaging Label
  Methods in Molecular Biology (Clifton, N.J.). 2020  |   Pubmed ID: 32112388
• The Past, Present, and Future of Modeling Cockayne Syndrome - A Commentary on "Rat Model of Cockayne Syndrome Neurological Disease"
  DNA Repair. 04, 2020  |   Pubmed ID: 32058278
• The End of the Beginning: The Journey to Molecular Therapies for Spinal Muscular Atrophy
  Pediatric Neurology. 01, 2020  |   Pubmed ID: 31481328
• Myocardial Glucose and Fatty Acid Metabolism is Altered and Associated with Lower Cardiac Function in Young Adults with Barth Syndrome
  Journal of Nuclear Cardiology : Official Publication of the American Society of Nuclear Cardiology. Nov, 2019  |   Pubmed ID: 31705425
• Increased MtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV- Gene Delivery
  International Journal of Molecular Sciences. Jul, 2019  |   Pubmed ID: 31336787
• Selective Serotonin Reuptake Inhibitors Ameliorate MEGF10 Myopathy
  Human Molecular Genetics. 07, 2019  |   Pubmed ID: 31267131
• Blunted Fat Oxidation Upon Submaximal Exercise is Partially Compensated by Enhanced Glucose Metabolism in Children, Adolescents, and Young Adults with Barth Syndrome
  Journal of Inherited Metabolic Disease. 05, 2019  |   Pubmed ID: 30924938
• AAV9- Gene Replacement Ameliorates Cardiac TMT Proteomic Profiles in a Mouse Model of Barth Syndrome
  Molecular Therapy. Methods & Clinical Development. Jun, 2019  |   Pubmed ID: 30788385
• Identification of a Pathogenic Mutation in ATP2A1 Via in Silico Analysis of Exome Data for Cryptic Aberrant Splice Sites
  Molecular Genetics & Genomic Medicine. 03, 2019  |   Pubmed ID: 30688039
• AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome
  Human Gene Therapy. 02, 2019  |   Pubmed ID: 30070157
• Impact of PYROXD1 Deficiency on Cellular Respiration and Correlations with Genetic Analyses of Limb-girdle Muscular Dystrophy in Saudi Arabia and Sudan
  Physiological Genomics. 11, 2018  |   Pubmed ID: 30345904
• Infiltrative and Drug-resistant Slow-cycling Cells Support Metabolic Heterogeneity in Glioblastoma
  The EMBO Journal. 12, 2018  |   Pubmed ID: 30322894
• PDK4 Deficiency Induces Intrinsic Apoptosis in Response to Starvation in Fibroblasts from Doberman Pinschers with Dilated Cardiomyopathy
  BioResearch Open Access. 2017  |   Pubmed ID: 29285418
• Consequences of MEGF10 Deficiency on Myoblast Function and Notch1 Interactions
  Human Molecular Genetics. 08, 2017  |   Pubmed ID: 28498977
• Impaired Cardiac and Skeletal Muscle Bioenergetics in Children, Adolescents, and Young Adults with Barth Syndrome
  Physiological Reports. Feb, 2017  |   Pubmed ID: 28196853
• Transfer of Therapeutic Genes into Fetal Rhesus Monkeys Using Recombinant Adeno-Associated Type I Viral Vectors
  Human Gene Therapy. Clinical Development. 12, 2016  |   Pubmed ID: 27855487
• Longitudinal Patterns of Thalidomide Neuropathy in Children and Adolescents
  The Journal of Pediatrics. Nov, 2016  |   Pubmed ID: 27567409
• Actin-dependent Mitochondrial Internalization in Cardiomyocytes: Evidence for Rescue of Mitochondrial Function
  Biology Open. Apr, 2015  |   Pubmed ID: 25862247
• Superparamagnetic Iron Oxide Nanoparticles Function As a Long-term, Multi-modal Imaging Label for Non-invasive Tracking of Implanted Progenitor Cells
  PloS One. 2014  |   Pubmed ID: 25250622
• Growth of Bone Marrow and Skeletal Muscle Side Population Stem Cells in Suspension Culture
  Methods in Molecular Biology (Clifton, N.J.). 2014  |   Pubmed ID: 25173160
• Silencing of Drpr Leads to Muscle and Brain Degeneration in Adult Drosophila
  The American Journal of Pathology. Aug, 2014  |   Pubmed ID: 25111228
• AAV Vectors for Cardiac Gene Transfer: Experimental Tools and Clinical Opportunities
  Molecular Therapy : the Journal of the American Society of Gene Therapy. Sep, 2011  |   Pubmed ID: 21792180
• Pompe Disease Gene Therapy
  Human Molecular Genetics. Apr, 2011  |   Pubmed ID: 21518733
• Relative Persistence of AAV Serotype 1 Vector Genomes in Dystrophic Muscle
  Genetic Vaccines and Therapy. 2008  |   Pubmed ID: 18854054
• Tissue Specific Promoters Improve Specificity of AAV9 Mediated Transgene Expression Following Intra-vascular Gene Delivery in Neonatal Mice
  Genetic Vaccines and Therapy. 2008  |   Pubmed ID: 18811960
• Neonatal Intraperitoneal or Intravenous Injections of Recombinant Adeno-associated Virus Type 8 Transduce Dorsal Root Ganglia and Lower Motor Neurons
  Human Gene Therapy. Jan, 2008  |   Pubmed ID: 18052722
• Long-term Skeletal Muscle Protection After Gene Transfer in a Mouse Model of LGMD-2D
  Molecular Therapy : the Journal of the American Society of Gene Therapy. Oct, 2007  |   Pubmed ID: 17653106
• Physiological Correction of Pompe Disease by Systemic Delivery of Adeno-associated Virus Serotype 1 Vectors
  Molecular Therapy : the Journal of the American Society of Gene Therapy. Mar, 2007  |   Pubmed ID: 17245350