Research Topics
| ERIC SCHONSummaryAffiliation: Columbia University Country: USA Publications
Research Grants
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Detail Information
Publications
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...- Heavy breathing: energy conversion by mitochondrial respiratory supercomplexesEric 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... - Complements of the houseEric 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... - Tales from the cryptEric 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... - Medicinal and genetic approaches to the treatment of mitochondrial diseaseEric 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... - Neuronal degeneration and mitochondrial dysfunctionEric A Schon
Department of Neurology, Columbia University, New York, New York 10032, USA
J Clin Invest 111:303-12. 2003 - 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.... - Mitochondrial genetics and diseaseE A Schon
Depts of Neurology and of Genetics and Development, Columbia University, New York, NY 10032, USA
Trends Biochem Sci 25:555-60. 2000.... - Therapeutic prospects for mitochondrial diseaseEric 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... - New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reportersCarl 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... - Mitochondrial abnormalities in muscle and other aging cells: classification, causes, and effectsSalvatore 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... - Mitochondrial disorders in the nervous systemSalvatore DiMauro
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA
Annu Rev Neurosci 31:91-123. 2008.... - Mitochondrial respiratory-chain diseasesSalvatore DiMauro
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, USA
N Engl J Med 348:2656-68. 2003 - Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defectsRebeca 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... - Mitochondrial DNA mutations in cancerStefanie Zanssen
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, New York, United States of America
PLoS Med 2:e401. 2005 - Approaches to the treatment of mitochondrial diseasesSalvatore 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... - Mitochondrial DNA and respiratory chain function in spinal cords of ALS patientsFalk R Wiedemann
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA
J Neurochem 80:616-25. 2002.... - Mitochondrial mutations: genotype to phenotypeEric 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... - Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleusGiovanni 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... - Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementationRobert 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... - Presenilins are enriched in endoplasmic reticulum membranes associated with mitochondriaEstela Area-Gomez
Department of Neurology, Columbia University Medical Center, New York, New York, USA
Am J Pathol 175:1810-6. 2009.... - Functional complementation of mitochondrial DNAs: mobilizing mitochondrial genetics against dysfunctionEric 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.... - Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndromeSara 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... - Identification of mutations in mtDNA from patients suffering mitochondrial diseasesEric 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 - An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunitJoseline Ojaimi
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York 10032, USA
Mol Biol Cell 13:3836-44. 2002.... - The kinase domain of mitochondrial PINK1 faces the cytoplasmChun 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... - Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2Hua 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... - Prkdc participates in mitochondrial genome maintenance and prevents Adriamycin-induced nephropathy in miceNatalia 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... - Appendix 6. Changes in the mitochondrial transcriptome and proteome under various stresses and growth conditionsEric 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 - Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutationsLeonardo 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... - Pathogenesis of the deafness-associated A1555G mitochondrial DNA mutationCarla 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... - Appendix 4. Mitochondrial genetic codes in various organismsEric 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 - Biochemical analysis of respiratory function in cybrid cell lines harbouring mitochondrial DNA mutationsFrancesco 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... - Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cellsSumana 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... - Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" proteinJohn 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... - Appendix 3. Linearized maps of circular mitochondrial genomes from representative organismsEric 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 - Rescue of a mitochondrial deficiency causing Leber Hereditary Optic NeuropathyJohn 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... - A functionally dominant mitochondrial DNA mutationSabrina 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... - 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... - Two direct repeats cause most human mtDNA deletionsDavid 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... - Risk of developing a mitochondrial DNA deletion disorderPatrick 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... - A toolkit for the cell's powerhouseEric A Schon
Nat Biotechnol 26:294-6. 2008
Research Grants
- CYTOCHROME OXIDASE ASSEMBLY GENES IN HUMAN DISEASEERIC SCHON; Fiscal Year: 2003..abstract_text> ..
- MITOCHONDRIAL DNA REARRANGEMENT IN NEUROMUSCULAR DISEASEERIC SCHON; Fiscal Year: 2002..Finally, we will search for potential factors associated with the control of mtDNA copy number. ..
- TRANSFECTING MAMMALIAN MITOCHONDRIA WITH EXOGENOUS DNAERIC SCHON; Fiscal Year: 2005....