ERIC SCHON

Summary

Affiliation: Columbia University
Country: USA

Publications

  1. pmc Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation
    Robert W Gilkerson
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Cell Biol 181:1117-28. 2008
  2. pmc Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
    Estela Area-Gomez
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    EMBO J 31:4106-23. 2012
  3. pmc Human mitochondrial DNA: roles of inherited and somatic mutations
    Eric A Schon
    Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA
    Nat Rev Genet 13:878-90. 2012
  4. ncbi Chromosomal non-disjunction in human oocytes: is there a mitochondrial connection?
    E A Schon
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Hum Reprod 15:160-72. 2000
  5. pmc Tales from the crypt
    Eric A Schon
    Department of Neurology, Room 4 431, Columbia University, 630 West 168th Street, New York, New York 10032, USA
    J Clin Invest 112:1312-6. 2003
  6. pmc Neuronal degeneration and mitochondrial dysfunction
    Eric A Schon
    Department of Neurology, Columbia University, New York, New York 10032, USA
    J Clin Invest 111:303-12. 2003
  7. doi Heavy breathing: energy conversion by mitochondrial respiratory supercomplexes
    Eric A Schon
    Columbia University, New York, NY 10032, USA
    Cell Metab 9:1-3. 2009
  8. ncbi Is Alzheimer's disease a disorder of mitochondria-associated membranes?
    Eric A Schon
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    J Alzheimers Dis 20:S281-92. 2010
  9. pmc Therapeutic prospects for mitochondrial disease
    Eric A Schon
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    Trends Mol Med 16:268-76. 2010
  10. pmc Complements of the house
    Eric A Schon
    Department of Neurology, Columbia University, New York, New York 10032, USA
    J Clin Invest 114:760-2. 2004

Collaborators

Detail Information

Publications44

  1. pmc Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation
    Robert W Gilkerson
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
    J Cell Biol 181:1117-28. 2008
    ..This genetic autonomy provides a molecular mechanism to explain patterns of mitochondrial genetic inheritance, in addition to facilitating therapeutic methods to eliminate deleterious mtDNA mutations...
  2. pmc Upregulated function of mitochondria-associated ER membranes in Alzheimer disease
    Estela Area-Gomez
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    EMBO J 31:4106-23. 2012
    ..We propose that upregulated MAM function at the ER-mitochondrial interface, and increased cross-talk between these two organelles, may play a hitherto unrecognized role in the pathogenesis of AD...
  3. pmc Human mitochondrial DNA: roles of inherited and somatic mutations
    Eric A Schon
    Department of Neurology, Columbia University Medical Center, 630 West 168th Street, New York, New York 10032, USA
    Nat Rev Genet 13:878-90. 2012
    ..Here we discuss insights into the roles of mtDNA mutations in a wide variety of diseases, highlighting the interesting genetic characteristics of the mitochondrial genome and challenges in studying its contribution to pathogenesis...
  4. ncbi Chromosomal non-disjunction in human oocytes: is there a mitochondrial connection?
    E A Schon
    Department of Neurology, Columbia University, New York, NY 10032, USA
    Hum Reprod 15:160-72. 2000
    ..This hypothesis would explain many of the non-Mendelian features associated with maternal age-related trisomies, e.g. Down's syndrome...
  5. pmc Tales from the crypt
    Eric A Schon
    Department of Neurology, Room 4 431, Columbia University, 630 West 168th Street, New York, New York 10032, USA
    J Clin Invest 112:1312-6. 2003
    ..Because crypts turn over extremely rapidly (about once per week), somatic mtDNA mutations can "take over the system" and even become homoplasmic, in a manner similar to what has been shown to occur in tumors...
  6. pmc Neuronal degeneration and mitochondrial dysfunction
    Eric A Schon
    Department of Neurology, Columbia University, New York, New York 10032, USA
    J Clin Invest 111:303-12. 2003
  7. doi Heavy breathing: energy conversion by mitochondrial respiratory supercomplexes
    Eric A Schon
    Columbia University, New York, NY 10032, USA
    Cell Metab 9:1-3. 2009
    ..A recent paper in Molecular Cell (Acin-Pérez et al., 2008) calls this model into question...
  8. ncbi Is Alzheimer's disease a disorder of mitochondria-associated membranes?
    Eric A Schon
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    J Alzheimers Dis 20:S281-92. 2010
    ....
  9. pmc Therapeutic prospects for mitochondrial disease
    Eric A Schon
    Department of Neurology, Columbia University Medical Center, New York, NY, USA
    Trends Mol Med 16:268-76. 2010
    ..Among these are techniques to upregulate mitochondrial biogenesis, enhance organellar fusion and fission, "shift heteroplasmy" and eliminate the burden of mutant mtDNAs via cytoplasmic transfer...
  10. pmc Complements of the house
    Eric A Schon
    Department of Neurology, Columbia University, New York, New York 10032, USA
    J Clin Invest 114:760-2. 2004
    ..A "Venn diagram" approach--not unlike a classic complementation experiment--reported in this issue will now make the search easier...
  11. ncbi Mitochondrial genetics and disease
    E A Schon
    Depts of Neurology and of Genetics and Development, Columbia University, New York, NY 10032, USA
    Trends Biochem Sci 25:555-60. 2000
    ....
  12. ncbi Medicinal and genetic approaches to the treatment of mitochondrial disease
    Eric A Schon
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Curr Med Chem 10:2523-33. 2003
    ..There has been progress with each of these approaches, although much work remains to be done. Finally, a novel approach to treating a specific mitochondrial disorder, MELAS, is presented...
  13. pmc New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters
    Carl D Gajewski
    Department of Neurology and Neuroscience, Weill Medical College, Cornell University, New York, New York 10021, USA
    Mol Biol Cell 14:3628-35. 2003
    ..The severe decrease in nuclear ATP content under "OXPHOS-only" conditions implies that depletion of nuclear ATP plays an important, and hitherto unappreciated, role in patients with mitochondrial dysfunction...
  14. pmc Mitochondrial DNA mutations in cancer
    Stefanie Zanssen
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, United States of America
    PLoS Med 2:e401. 2005
  15. ncbi Mitochondrial disorders in the nervous system
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
    Annu Rev Neurosci 31:91-123. 2008
    ....
  16. ncbi Mitochondrial respiratory-chain diseases
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA
    N Engl J Med 348:2656-68. 2003
  17. ncbi Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effects
    Salvatore DiMauro
    Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA
    Muscle Nerve 26:597-607. 2002
    ..We conclude that mitochondrial dysfunction does play a crucial role in the aging process of both muscle and brain, but it remains unclear whether mitochondria are the culprits or mere accomplices...
  18. pmc Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects
    Rebeca Acín-Pérez
    Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY, USA
    EMBO Mol Med 1:392-406. 2009
    ..This is the first example of manipulation of a mitochondrial signalling pathway to achieve a direct positive modulation of COX, with clear implications for the development of novel approaches to treat mitochondrial diseases...
  19. ncbi Approaches to the treatment of mitochondrial diseases
    Salvatore DiMauro
    Department of Neurology, Columbia University Medical Center, 4 420 College of Physicians and Surgeons, 630 West 168th Street, New York, New York 10032, USA
    Muscle Nerve 34:265-83. 2006
    ..Preventive therapy through genetic counseling and prenatal diagnosis is becoming increasingly important for nuclear DNA-related disorders...
  20. ncbi Mitochondrial DNA and respiratory chain function in spinal cords of ALS patients
    Falk R Wiedemann
    Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA
    J Neurochem 80:616-25. 2002
    ....
  21. ncbi Mitochondrial mutations: genotype to phenotype
    Eric A Schon
    Department of Neurology, Columbia University Medical School, 630 West 168th Street, New York, NY 10032, USA
    Novartis Found Symp 287:214-25; discussion 226-33. 2007
    ..All four categories will be discussed...
  22. ncbi Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus
    Giovanni Manfredi
    Department of Neurology and Neuroscience, Cornell University, New York, New York, USA
    Nat Genet 30:394-9. 2002
    ..This is the first successful demonstration of allotopic expression of an mtDNA-encoded polypeptide in mammalian cells and could form the basis of a genetic approach to treat a number of human mitochondrial disorders...
  23. doi Functional complementation of mitochondrial DNAs: mobilizing mitochondrial genetics against dysfunction
    Eric A Schon
    Department of Neurology, College of Physicians and Surgeons, Columbia University, Russ Berrie Pavilion 307, 1150 St Nicholas Ave, New York, NY 10032, USA
    Biochim Biophys Acta 1800:245-9. 2010
    ....
  24. pmc Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondria
    Estela Area-Gomez
    Department of Neurology, Columbia University Medical Center, New York, New York, USA
    Am J Pathol 175:1810-6. 2009
    ....
  25. pmc Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome
    Sara Shanske
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, 10032, USA
    Am J Hum Genet 71:679-83. 2002
    ..We conclude that, although the vast majority of single large-scale deletions in mtDNA are sporadic, in rare cases, single deletions can be transmitted through the germline...
  26. pmc An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit
    Joseline Ojaimi
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    Mol Biol Cell 13:3836-44. 2002
    ....
  27. ncbi Identification of mutations in mtDNA from patients suffering mitochondrial diseases
    Eric A Schon
    Departments of Neurology and of Genetics and Development, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Methods Mol Biol 197:55-74. 2002
  28. ncbi Appendix 6. Changes in the mitochondrial transcriptome and proteome under various stresses and growth conditions
    Eric A Schon
    Department of Neurology and Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Methods Cell Biol 80:877-87. 2007
  29. pmc Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2
    Hua Yang
    Department of Neurology, Columbia University Medical Center, Berrie 303A, New York, NY 10032, USA
    Hum Mol Genet 19:170-80. 2010
    ..These mouse models should be of use in further studies of Sco2 function, as well as in testing therapeutic approaches to treat the human disorder...
  30. ncbi Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutation
    Carla Giordano
    Department of Neurology, College of Physicians and Surgeons, Columbia University, Room 5 431, 630 West 168th Street, Columbia, NY 10032, USA
    Biochem Biophys Res Commun 293:521-9. 2002
    ..The decrease did not correlate with the rate of synthesis or stability of mitochondrial DNA-encoded subunits or respiratory chain activity. Further studies are required to determine the underlying biochemical defect...
  31. pmc Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutations
    Francesco Pallotti
    Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, USA
    Biochem J 384:287-93. 2004
    ..However, the distinct clinical features associated with some of these mutations still remain to be elucidated...
  32. ncbi Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells
    Sumana Santra
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Ann Neurol 56:662-9. 2004
    ..The demonstration that ketone bodies can distinguish between normal and respiratorily compromised cells points to the potential use of a ketogenic diet to treat patients with heteroplasmic mtDNA disorders...
  33. ncbi Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein
    John C Williams
    Department of Biochemistry and Molecular Biophysics, Columbia University, New York, New York 10032, USA
    J Biol Chem 280:15202-11. 2005
    ..These data suggests that SCO functions not as a COX copper chaperone, but rather as a mitochondrial redox signaling molecule...
  34. pmc Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in mice
    Natalia Papeta
    Department of Medicine, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
    J Clin Invest 120:4055-64. 2010
    ..These findings implicate mtDNA damage in the development of ADR toxicity and identify Prkdc as a MDDS modifier gene and a component of the mitochondrial genome maintenance pathway...
  35. pmc Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
    Leonardo Salviati
    Department of Neurology, College of Physicians and Surgeons, Columbia University, 630 West 168th Street, New York, NY 10032, U S A
    Biochem J 363:321-7. 2002
    ..Our data demonstrate that the COX deficiency observed in fibroblasts, myoblasts and myotubes from patients with SCO2 mutations can be restored to almost normal levels by the addition of CuCl(2) to the growth medium...
  36. ncbi Appendix 4. Mitochondrial genetic codes in various organisms
    Eric A Schon
    Department of Neurology and Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Methods Cell Biol 80:831-3. 2007
  37. ncbi Appendix 3. Linearized maps of circular mitochondrial genomes from representative organisms
    Eric A Schon
    Department of Neurology and Department of Genetics and Development, Columbia University, New York, NY 10032, USA
    Methods Cell Biol 80:827-9. 2007
  38. pmc The kinase domain of mitochondrial PINK1 faces the cytoplasm
    Chun Zhou
    Department of Neurology, Columbia University, 650 West 168th Street, New York, NY 10032, USA
    Proc Natl Acad Sci U S A 105:12022-7. 2008
    ..These results are critical in rectifying the location and orientation of PINK1 in mitochondria, and they should help decipher its normal physiological function and potential pathogenic role in PD...
  39. pmc A functionally dominant mitochondrial DNA mutation
    Sabrina Sacconi
    Féderation des maladies neuromusculaires, CHU de Nice and INSERM U638, Nice, France
    Hum Mol Genet 17:1814-20. 2008
    ..Moreover, similar mutations arising stochastically and accumulating in a minority of mtDNA molecules during the aging process may severely impair RC function in cells...
  40. ncbi Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy
    John Guy
    Department of Ophthalmology, Neuro Opthalmology Service, University of Florida College of Medicine, Gainesville, FL 32610, USA
    Ann Neurol 52:534-42. 2002
    ..Restoration of respiration by allotopic expression opens the door for gene therapy of Leber Hereditary Optic Neuropathy...
  41. ncbi Risk of developing a mitochondrial DNA deletion disorder
    Patrick F Chinnery
    Neurology, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
    Lancet 364:592-6. 2004
    ..Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known...
  42. doi A toolkit for the cell's powerhouse
    Eric A Schon
    Nat Biotechnol 26:294-6. 2008
  43. ncbi Two direct repeats cause most human mtDNA deletions
    David C Samuels
    Virginia Bioinformatics Institute, Virginia Polytechnic Institute and State University, Blacksburg, VA 24061, USA
    Trends Genet 20:393-8. 2004
    ..The vast majority of different mtDNA deletions appear to be related to these two repeats, suggesting a common mechanism related to mtDNA replication...
  44. ncbi Does premature aging of the mtDNA mutator mouse prove that mtDNA mutations are involved in natural aging?
    Konstantin Khrapko
    Gerontology Division, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
    Aging Cell 5:279-82. 2006
    ..Thus, mtDNA mutations may indeed be relevant to human aging, but they probably differ by origin, type, distribution, and spectra of affected tissues from those observed in mutator mice...

Research Grants14

  1. CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASE
    ERIC SCHON; Fiscal Year: 2003
    ..abstract_text> ..
  2. CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASE
    ERIC SCHON; Fiscal Year: 2002
    ..abstract_text> ..
  3. MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE
    ERIC SCHON; Fiscal Year: 2002
    ..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
  4. CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASE
    ERIC SCHON; Fiscal Year: 2001
    ..abstract_text> ..
  5. MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE
    ERIC SCHON; Fiscal Year: 2001
    ..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
  6. MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE
    ERIC SCHON; Fiscal Year: 2000
    ..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
  7. MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE
    ERIC SCHON; Fiscal Year: 2000
    ..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
  8. CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASE
    ERIC SCHON; Fiscal Year: 2000
    ..abstract_text> ..
  9. MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASE
    ERIC SCHON; Fiscal Year: 1999
    ..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
  10. TRANSFECTING MAMMALIAN MITOCHONDRIA WITH EXOGENOUS DNA
    ERIC SCHON; Fiscal Year: 2005
    ....