Charles Epstein

Summary

Affiliation: University of California
Country: USA

Publications

  1. ncbi Werner syndrome: entering the helicase era
    C J Epstein
    Department of Pediatrics, University of California, San Francisco 94143 0748, USA
    Bioessays 18:1025-7. 1996
  2. pmc 2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics"
    Charles J Epstein
    Department of Pediatrics and Program in Human Genetics, University of California, San Francisco, CA, USA
    Am J Hum Genet 70:300-13. 2002
  3. ncbi Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema
    Samuel Hawgood
    Cardiovascular Research Institute and Department of Pediatrics, University of California San Francisco, San Francisco, California 94118 1944, USA
    Am J Physiol Lung Cell Mol Physiol 283:L1002-10. 2002
  4. ncbi Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(171)65Dn and mouse chromosome 12
    Angela J Villar
    Department of Pediatrics, University of California, San Francisco, San Francisco, California 94143, USA
    Mamm Genome 16:79-90. 2005
  5. pmc Medical genetics in the genomic medicine of the 21st century
    Charles J Epstein
    Department of Pediatrics and Center for Human Genetics, University of California, San Francisco, USA
    Am J Hum Genet 79:434-8. 2006
  6. ncbi Urea-selective concentrating defect in transgenic mice lacking urea transporter UT-B
    Baoxue Yang
    Department of Medicine, Cardiovascular Research Institute, University of California, San Francisco, California 94143 0521, USA
    J Biol Chem 277:10633-7. 2002
  7. ncbi Transgenic and mutant mice for oxygen free radical studies
    Ting Ting Huang
    Department of Pediatrics, Genetics Division, University of California, San Francisco, California 94143, USA
    Methods Enzymol 349:191-213. 2002
  8. pmc Genes contributing to prion pathogenesis
    GULTEKIN TAMGUNEY
    Institute for Neurodegenerative Diseases, University of California, San Francisco, CA, USA
    J Gen Virol 89:1777-88. 2008
  9. ncbi Effect of SOD1 overexpression on age- and noise-related hearing loss
    Donald E Coling
    Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology Head and Neck Surgery, University of California San Francisco, San Francisco, CA 94143 0526, USA
    Free Radic Biol Med 34:873-80. 2003
  10. ncbi Is modern genetics the new eugenics?
    Charles J Epstein
    Department of Pediatrics, University of California, San Francisco 9433 0748
    Genet Med 5:469-75. 2003

Research Grants

  1. MOUSE MODELS OF DOWN SYNDROME: PHENOTYPIC MAPPING
    Charles Epstein; Fiscal Year: 2002
  2. AGE RELATED DEGENERATION
    Charles Epstein; Fiscal Year: 2002

Collaborators

Detail Information

Publications40

  1. ncbi Werner syndrome: entering the helicase era
    C J Epstein
    Department of Pediatrics, University of California, San Francisco 94143 0748, USA
    Bioessays 18:1025-7. 1996
    ..The discovery of the helicase defect in Werner syndrome provides a road map for future study of its unique pathogenesis and conceivable, but unproved, relationship to the aging process...
  2. pmc 2001 William Allan Award Address. From Down syndrome to the "human" in "human genetics"
    Charles J Epstein
    Department of Pediatrics and Program in Human Genetics, University of California, San Francisco, CA, USA
    Am J Hum Genet 70:300-13. 2002
  3. ncbi Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema
    Samuel Hawgood
    Cardiovascular Research Institute and Department of Pediatrics, University of California San Francisco, San Francisco, California 94118 1944, USA
    Am J Physiol Lung Cell Mol Physiol 283:L1002-10. 2002
    ..These changes qualitatively resemble the lung pathology seen in SP-D-deficient mice. These doubly deficient mice will be useful in dissecting the potential overlap in function between SP-A and SP-D in host defense...
  4. ncbi Identification and characterization of a new Down syndrome model, Ts[Rb(12.1716)]2Cje, resulting from a spontaneous Robertsonian fusion between T(171)65Dn and mouse chromosome 12
    Angela J Villar
    Department of Pediatrics, University of California, San Francisco, San Francisco, California 94143, USA
    Mamm Genome 16:79-90. 2005
    ..We conclude that this new model of Down syndrome offers reproductive advantages without sacrificing the integrity of the Ts65Dn model...
  5. pmc Medical genetics in the genomic medicine of the 21st century
    Charles J Epstein
    Department of Pediatrics and Center for Human Genetics, University of California, San Francisco, USA
    Am J Hum Genet 79:434-8. 2006
  6. ncbi Urea-selective concentrating defect in transgenic mice lacking urea transporter UT-B
    Baoxue Yang
    Department of Medicine, Cardiovascular Research Institute, University of California, San Francisco, California 94143 0521, USA
    J Biol Chem 277:10633-7. 2002
    ..The UT-B null mice generated for these studies should also be useful in establishing the role of facilitated urea transport in extrarenal organs expressing UT-B...
  7. ncbi Transgenic and mutant mice for oxygen free radical studies
    Ting Ting Huang
    Department of Pediatrics, Genetics Division, University of California, San Francisco, California 94143, USA
    Methods Enzymol 349:191-213. 2002
  8. pmc Genes contributing to prion pathogenesis
    GULTEKIN TAMGUNEY
    Institute for Neurodegenerative Diseases, University of California, San Francisco, CA, USA
    J Gen Virol 89:1777-88. 2008
    ....
  9. ncbi Effect of SOD1 overexpression on age- and noise-related hearing loss
    Donald E Coling
    Laboratory of Molecular Otology, Epstein Laboratories, Department of Otolaryngology Head and Neck Surgery, University of California San Francisco, San Francisco, CA 94143 0526, USA
    Free Radic Biol Med 34:873-80. 2003
    ..The results indicate the complexity of oxidative metabolism in the cochlea is greater than previously hypothesized...
  10. ncbi Is modern genetics the new eugenics?
    Charles J Epstein
    Department of Pediatrics, University of California, San Francisco 9433 0748
    Genet Med 5:469-75. 2003
  11. ncbi Medical geneticists in the 21st century
    Charles J Epstein
    Department of Pediatrics, University of California San Francisco, 533 Parnassus, San Francisco, CA, USA
    Genet Med 7:375-9. 2005
  12. ncbi Slit1 and Slit2 cooperate to prevent premature midline crossing of retinal axons in the mouse visual system
    Andrew S Plump
    Department of Anatomy, Howard Hughes Medical Institute, CA, USA
    Neuron 33:219-32. 2002
    ..Our results indicate that Slit proteins repel retinal axons in vivo and cooperate to establish a corridor through which the axons are channeled, thereby helping define the site in the ventral diencephalon where the optic chiasm forms...
  13. ncbi Selective neuronal vulnerability and inadequate stress response in superoxide dismutase mutant mice
    Stephen Lynn
    Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA 94305, USA
    Free Radic Biol Med 38:817-28. 2005
    ..Other major classes of differentially expressed genes include lipid biosynthesis and ROS metabolism...
  14. ncbi Abnormal synaptic plasticity in the Ts1Cje segmental trisomy 16 mouse model of Down syndrome
    Richard J Siarey
    Department of Anatomy, Physiology and Genetics, Neuroscience Program, USUHS, School of Medicine, Bethesda, MD 20814, USA
    Neuropharmacology 49:122-8. 2005
    ..These findings suggest that genes from Ts1Cje chromosome, including GIRK2 potassium channel, contribute to abnormal short- and long-term plasticity...
  15. ncbi Down's syndrome: critical genes in a critical region
    Charles J Epstein
    Nature 441:582-3. 2006
  16. ncbi Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration
    Ahmad Salehi
    Department of Neurology and Neurological Sciences, Stanford University, Stanford, California 94305, USA
    Neuron 51:29-42. 2006
    ..Our study thus provides evidence for a pathogenic mechanism for DS in which increased expression of App, in the context of trisomy, causes abnormal transport of NGF and cholinergic neurodegeneration...
  17. ncbi Mitochondrial dysfunction and tau hyperphosphorylation in Ts1Cje, a mouse model for Down syndrome
    Ebrahim Abdul Shukkur
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Saitama, Japan
    Hum Mol Genet 15:2752-62. 2006
    ....
  18. ncbi Synaptic and cognitive abnormalities in mouse models of Down syndrome: exploring genotype-phenotype relationships
    Pavel V Belichenko
    Department of Neurology and Neurological Sciences and the Center for Research and Treatment of Down Syndrome, Stanford University Medical Center, Stanford, California 94305 5489, USA
    J Comp Neurol 504:329-45. 2007
    ..The analysis of data from this and earlier studies points to genotype-phenotype linkages in DS whose complexity ranges from relatively simple to quite complex...
  19. pmc DYRK1A-dosage imbalance perturbs NRSF/REST levels, deregulating pluripotency and embryonic stem cell fate in Down syndrome
    Claudia Canzonetta
    Institute of Cell and Molecular Science, Barts and The London, Queen Mary s School of Medicine and Dentistry, University of London, 4 Newark Street, London E1 2AT, UK
    Am J Hum Genet 83:388-400. 2008
    ....
  20. ncbi App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome
    Anne M Cataldo
    Mailman Research Center, McLean Hospital, Belmont, Massachusetts 02478, USA
    J Neurosci 23:6788-92. 2003
    ..These results identify an essential role for App gene triplication in causing AD-related endosomal abnormalities and further establish the pathogenic significance of endosomal dysfunction in AD...
  21. ncbi Hippocampal long-term potentiation suppressed by increased inhibition in the Ts65Dn mouse, a genetic model of Down syndrome
    Alexander M Kleschevnikov
    Department of Neurology and Neurological Sciences, and the Institute for Neuroscience, Stanford University Medical School, Stanford University, Stanford, California 94305 5489, USA
    J Neurosci 24:8153-60. 2004
    ..These findings raise the possibility that similar changes contribute to abnormalities in learning and memory in people with DS and, perhaps, in other developmental disorders with cognitive failure...
  22. pmc 2001 William Allan Award Address. Introductory speech for Charles J. Epstein
    Arno G Motulsky
    Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Am J Hum Genet 70:297-9. 2002
  23. ncbi Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome
    Kenji Amano
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
    Hum Mol Genet 13:1333-40. 2004
    ..0-fold) in Ts1Cje and 2N mice. These results indicate that the genes in the trisomic region of Ts1Cje are over-expressed in a dosage-dependent manner and are implicated in the molecular pathogenesis of DS...
  24. ncbi Craniofacial phenotypes in segmentally trisomic mouse models for Down syndrome
    Joan T Richtsmeier
    Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania 16802, USA
    Am J Med Genet 107:317-24. 2002
    ..The subtle differences in the craniofacial phenotypes of Ts1Cje and Ts65Dn mice have implications for elucidation of the mechanisms by which this aneuploidy disrupts development...
  25. ncbi Manganese superoxide dismutase deficiency enhances cell turnover via tumor promoter-induced alterations in AP-1 and p53-mediated pathways in a skin cancer model
    Yunfent Zhao
    Graduate Center for Toxicology, University of Kentucky, Lexington, KY 40536, USA
    Oncogene 21:3836-46. 2002
    ....
  26. ncbi Effect of the reduction of superoxide dismutase 1 and 2 or treatment with alpha-tocopherol on tumorigenesis in Atm-deficient mice
    Laura Erker
    Departments of Pediatrics and Medicine, Center for Human Genetics and Genomics, UCSD School of Medicine, La Jolla, CA 92093, USA
    Free Radic Biol Med 41:590-600. 2006
    ....
  27. ncbi Reactive oxygen species and vascular cell adhesion molecule-1 in distant organ failure following bile duct obstruction in mice
    Zenichi Morise
    Department of Surgery, Urawa Municipal Hospital, Saitama, Japan
    Dig Dis Sci 47:607-13. 2002
    ..These data suggest that reactive oxygen species produced in response to BDL may up-regulate VCAM-1 expression in the lung and play an important role in the pathophysiology of this pulmonary injury...
  28. ncbi The challenge of Down syndrome
    Stylianos E Antonarakis
    Department of Genetic Medicine and Development, University of Geneva Medical School, University Hospitals of Geneva, 1 rue Michel Servet, 1211 Geneva, Switzerland
    Trends Mol Med 12:473-9. 2006
    ..As a result, basic research on DS is now rapidly accelerating, and there is hope that the findings will be translatable into benefit for people with DS...
  29. ncbi Increased sensitivity of homozygous Sod2 mutant mice to oxygen toxicity
    Tiina M Asikainen
    Hospital for Children and Adolescents, University of Helsinki, Helsinki, Finland
    Free Radic Biol Med 32:175-86. 2002
    ..We conclude that MnSOD is required for normal O2 tolerance and that in the absence of MnSOD there is a compensatory increase in pulmonary glutathione-dependent antioxidant defense in hyperoxia...
  30. pmc The in vivo gene expression signature of oxidative stress
    Eun Soo Han
    Department of Biological Science, University of Tulsa, Tulsa, Oklahoma, USA
    Physiol Genomics 34:112-26. 2008
    ..A retrospective comparison with previous studies shows that induction of these p53 target genes is a conserved expression response to oxidative stress, in vivo and in vitro, in different species and different cells/organs...
  31. ncbi A biologically effective fullerene (C60) derivative with superoxide dismutase mimetic properties
    Sameh S Ali
    Center for the Study of Nervous System Injury CSNSI, Department of Neurology, Washington University, St Louis, MO 63130, USA
    Free Radic Biol Med 37:1191-202. 2004
    ..These data, coupled with evidence that C3 localizes to mitochondria, suggest that C3 functionally replaces MnSOD, acting as a biologically effective SOD mimetic...
  32. ncbi Genetic modifiers of the phenotype of mice deficient in mitochondrial superoxide dismutase
    Ting Ting Huang
    Department of Neurology and Neurological Sciences, Stanford University, CA 94305, USA
    Hum Mol Genet 15:1187-94. 2006
    ..This action of NNT could explain its putative protective role in MnSOD-deficient mice...
  33. pmc Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster
    Stephen L Clarke
    Department of Nutritional Sciences, University of Wisconsin, Madison, WI 53706, USA
    EMBO J 25:544-53. 2006
    ..Our results reveal a mechanism for regulating IRP1 action relevant to the control of iron homeostasis during cell proliferation, inflammation, and in response to diseases altering cytosolic Fe-S cluster assembly or disassembly...
  34. ncbi Alterations in mitochondrial function, hydrogen peroxide release and oxidative damage in mouse hind-limb skeletal muscle during aging
    Abdellah Mansouri
    Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229 3901, USA
    Mech Ageing Dev 127:298-306. 2006
    ..In addition, increased oxidative stress generated by reduced activity of MnSOD does not exacerbate these alterations during aging...
  35. ncbi Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
    V Reid Sutton
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
    Hum Genet 113:447-51. 2003
    ....
  36. ncbi Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging
    Holly Van Remmen
    Department of Cellular and Structural Biology at the University of Texas Health Science Center at San Antonio, San Antonio 78229 3900, USA
    Physiol Genomics 16:29-37. 2003
    ..Thus life-long reduction of MnSOD activity leads to increased levels of oxidative damage to DNA and increased cancer incidence but does not appear to affect aging...
  37. ncbi A mechanism-based antioxidant approach for the reduction of skin carcinogenesis
    Yunfeng Zhao
    Graduate Center for Toxicology and Department of Radiation Medicine, University of Kentucky, Lexington, Kentucky, USA
    Cancer Res 65:1401-5. 2005
    ..Remarkably, the incidence and multiplicity of skin tumors were reduced in mice that received MnTE-2-PyP(5+) before cell proliferation. These results show a novel strategy for an antioxidant approach to cancer intervention...
  38. ncbi Multiple deficiencies in antioxidant enzymes in mice result in a compound increase in sensitivity to oxidative stress
    Holly Van Remmen
    Department of Cellular and Structural Biology, University of Texas Health Science Center at San Antonio, San Antonio, TX 78284 7762, USA
    Free Radic Biol Med 36:1625-34. 2004
    ....
  39. ncbi CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life
    Sailaja Elchuri
    Department of Neurology and Neurological Sciences, Stanford University, Stanford, CA 94305, USA
    Oncogene 24:367-80. 2005
    ..Increased cell proliferation in the presence of persistent oxidative damage to macromolecules likely contributes to hepatocarcinogenesis later in life...
  40. ncbi Synaptic structural abnormalities in the Ts65Dn mouse model of Down Syndrome
    Pavel V Belichenko
    Department of Neurology and Neurological Sciences and the Center for Research and Treatment of Down Syndrome, Stanford University Medical Center, 1201 Welch Road, Stanford, California 94305 5489, USA
    J Comp Neurol 480:281-98. 2004
    ..They establish the Ts65Dn mouse as a model for abnormal synapse structure and function in Down syndrome and point to the importance of studies to elucidate the mechanisms responsible for synapse enlargement...

Research Grants2

  1. MOUSE MODELS OF DOWN SYNDROME: PHENOTYPIC MAPPING
    Charles Epstein; Fiscal Year: 2002
    ....
  2. AGE RELATED DEGENERATION
    Charles Epstein; Fiscal Year: 2002
    ....