Marni J Falk

Summary

Affiliation: The Children's Hospital of Philadelphia
Country: USA

Publications

  1. pmc Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans
    M J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
    Mol Genet Metab 93:388-97. 2008
  2. pmc Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
    Min Peng
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
    PLoS Genet 4:e1000061. 2008
  3. doi request reprint Neurodevelopmental manifestations of mitochondrial disease
    Marni J Falk
    Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Dev Behav Pediatr 31:610-21. 2010
  4. pmc Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice
    Marni J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    EMBO Mol Med 3:410-27. 2011
  5. ncbi request reprint Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome
    Marni J Falk
    Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Discov Med 14:389-99. 2012
  6. pmc Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans
    Marni J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
    PLoS ONE 4:e6607. 2009
  7. pmc Mitochondrial genetic diseases
    Marni J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Pediatr 22:711-6. 2010
  8. pmc Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network
    Zhe Zhang
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 8:e69282. 2013
  9. pmc Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans
    Erzsebet Polyak
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Methods Mol Biol 837:241-55. 2012
  10. pmc Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy
    Zhe Zhang
    Division of Biomedical Informatics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Mol Genet Metab 99:309-18. 2010

Collaborators

Detail Information

Publications24

  1. pmc Metabolic pathway profiling of mitochondrial respiratory chain mutants in C. elegans
    M J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
    Mol Genet Metab 93:388-97. 2008
    ..Such knowledge may enable the development of a metabolomic profiling diagnostic tool applicable to human mitochondrial disease...
  2. pmc Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease
    Min Peng
    Department of Genetics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, United States of America
    PLoS Genet 4:e1000061. 2008
    ..These data suggest that disease manifestations of CoQ deficiency relate to tissue-specific respiratory capacity thresholds, with glomerular podocytes displaying the greatest sensitivity to Pdss2 impairment...
  3. doi request reprint Neurodevelopmental manifestations of mitochondrial disease
    Marni J Falk
    Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA
    J Dev Behav Pediatr 31:610-21. 2010
    ..A general overview of the current diagnostic evaluation that can be readily initiated by the Developmental Pediatrician is provided, along with a summary of currently available treatment options...
  4. pmc Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency in Pdss2 mutant mice
    Marni J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    EMBO Mol Med 3:410-27. 2011
    ....
  5. ncbi request reprint Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome
    Marni J Falk
    Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Discov Med 14:389-99. 2012
    ..The "1:100 Mito-Plus Whole-Exome" Agilent capture kit offers an optimized tool for whole-exome analysis of nuclear and mtDNA genes relevant to the diagnostic evaluation of mitochondrial disease...
  6. pmc Subcomplex Ilambda specifically controls integrated mitochondrial functions in Caenorhabditis elegans
    Marni J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA, USA
    PLoS ONE 4:e6607. 2009
    ..We demonstrate that functional consequences of complex I deficiency vary with the particular subunit that is defective...
  7. pmc Mitochondrial genetic diseases
    Marni J Falk
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Pediatr 22:711-6. 2010
    ..In this review, we evaluate new findings in mitochondrial genetics, recent developments in mitochondrial disease diagnostic testing, and emerging ideas for mitochondrial disease therapies...
  8. pmc Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network
    Zhe Zhang
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
    PLoS ONE 8:e69282. 2013
    ..We further identify the integrated nutrient-sensing signaling network as a common cellular response that mediates, and may be amenable to targeted therapies for, tissue-specific sequelae of primary mitochondrial RC disease. ..
  9. pmc Molecular profiling of mitochondrial dysfunction in Caenorhabditis elegans
    Erzsebet Polyak
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Methods Mol Biol 837:241-55. 2012
    ..elegans, qRT-PCR analysis of both nuclear and mitochondrial genes, and global nuclear genome expression profiling using the Affymetrix GeneChip C. elegans Genome Array...
  10. pmc Cross-platform expression microarray performance in a mouse model of mitochondrial disease therapy
    Zhe Zhang
    Division of Biomedical Informatics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Mol Genet Metab 99:309-18. 2010
    ..Cross-platform analyses of biochemical pathway data will require additional data processing and novel computational bioinformatics tools to address unique statistical challenges...
  11. pmc Parkinson's disease-like neuromuscular defects occur in prenyl diphosphate synthase subunit 2 (Pdss2) mutant mice
    Carly G K Ziegler
    Department of Genetics, The University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA
    Mitochondrion 12:248-57. 2012
    ..Both conditional knockout and missense mutant mice demonstrate deficiencies in tyrosine hydroxylase-positive neurons in the substantia nigra, implicating a pathology similar to sporadic Parkinson's disease (PD)...
  12. pmc Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites
    Colleen Clarke
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Mol Genet Metab 110:145-52. 2013
    ....
  13. doi request reprint In vivo metabolic flux profiling with stable isotopes discriminates sites and quantifies effects of mitochondrial dysfunction in C. elegans
    Samantha Schrier Vergano
    Division of Human Genetics, The Children s Hospital of Philadelphia, and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA Division of Metabolic Disease, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA Children s Hospital of The King s Daughters, Division of Medical Genetics and Metabolism, Norfolk, VA, USA
    Mol Genet Metab 111:331-41. 2014
    ..elegans, to interrogate in vivo differences in metabolic flux among distinct genetic models of primary RC defects and closely related metabolic disorders...
  14. pmc Mitochondrial respiratory chain dysfunction variably increases oxidant stress in Caenorhabditis elegans
    Stephen Dingley
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA 19104, USA
    Mitochondrion 10:125-36. 2010
    ..elegans. This work highlights the utility of the C. elegans model as a tractable means to non-invasively monitor multi-dimensional in vivo consequences of primary mitochondrial dysfunction...
  15. pmc Fluorescence-activated cell sorting analysis of mitochondrial content, membrane potential, and matrix oxidant burden in human lymphoblastoid cell lines
    Stephen Dingley
    Division of Human Genetics, Department of Pediatrics, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Methods Mol Biol 837:231-9. 2012
    ....
  16. pmc Mitochondrial complex I function modulates volatile anesthetic sensitivity in C. elegans
    Marni J Falk
    Department of Pediatrics, University Hospitals of Cleveland, Case School of Medicine, Cleveland, OH 44106, USA
    Curr Biol 16:1641-5. 2006
    ..This work is the first to specifically implicate complex I-dependent oxidative phosphorylation function as a primary mediator of volatile anesthetic effect...
  17. pmc Leucine-rich pentatricopeptide-repeat containing protein regulates mitochondrial transcription
    Neal Sondheimer
    Department of Pediatrics, The University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Biochemistry 49:7467-73. 2010
    ..These findings demonstrate the control of mitochondrial mRNA synthesis by a protein that has an established role in regulating nuclear transcription and a link to mitochondrial disease...
  18. pmc Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts
    Samantha A Schrier
    Division of Human Genetics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Discov Med 13:143-50. 2012
    ..Furthermore, it is the first report to directly implicate a single mtDNA mutation in the pathogenesis of ocular cataracts and clearly illustrates the important contribution of normal metabolic activity to the function of the ocular lens...
  19. pmc Molecular genetic testing for mitochondrial disease: from one generation to the next
    Elizabeth McCormick
    Divisions of Human Genetics and Child Development and Metabolic Disease, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
    Neurotherapeutics 10:251-61. 2013
    ..These findings highlight the particular utility of massively parallel nuclear exome sequencing technologies, whose benefits and limitations are explored relative to the clinical genetic diagnostic evaluation of mitochondrial disease...
  20. pmc NMNAT1 mutations cause Leber congenital amaurosis
    Marni J Falk
    Department of Pediatrics, Division of Human Genetics, The Children s Hospital of Philadelphia, Pennsylvania, USA
    Nat Genet 44:1040-5. 2012
    ..These results are the first to link an NMNAT isoform to disease in humans and indicate that NMNAT1 mutations cause LCA...
  21. pmc Mitochondrial genome sequence analysis: a custom bioinformatics pipeline substantially improves Affymetrix MitoChip v2.0 call rate and accuracy
    Hongbo M Xie
    Center for Biomedical Informatics, The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    BMC Bioinformatics 12:402. 2011
    ....
  22. pmc Mitochondrial disorders and the eye
    Samantha A Schrier
    Division of Human Genetics and Child Development, Department of Pediatrics, The Children s Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA
    Curr Opin Ophthalmol 22:325-31. 2011
    ....
  23. pmc The in-depth evaluation of suspected mitochondrial disease
    Richard H Haas
    Department of Neurosciences, University of California San Diego, La Jolla, CA and Rady Children s Hospital San Diego, San Diego, CA, United States
    Mol Genet Metab 94:16-37. 2008
    ..The aim of this work is to facilitate the diagnosis of mitochondrial disease by geneticists, neurologists, and other metabolic specialists who face the challenge of evaluating patients of all ages with suspected mitochondrial disease...
  24. ncbi request reprint Mitochondrial disease: a practical approach for primary care physicians
    Richard H Haas
    Department of Neurosciences, University of California San Diego, 9500 Gilman Dr, La Jolla, CA 92093 0935, USA
    Pediatrics 120:1326-33. 2007
    ....

Research Grants3

  1. Pharmacologic treatment of mitochondrial complex I dysfunction in C. elegans
    Marni J Falk; Fiscal Year: 2010
    ..This translational research may demonstrate effective pharmacologic therapies, and their specific mechanisms, to potentially mitigate the secondary consequences of human mitochondrial disease. ..
  2. Translational Genomic Study of Mitochondrial Complex I Dysfunction in C. elegans
    Marni Falk; Fiscal Year: 2007
    ..Understanding specific genetic causes of mitochondrial disease will provide the basis for rational clinical diagnosis, treatment, and perhaps, cure. ..