Stephen Warren

Summary

Affiliation: Emory University
Country: USA

Publications

  1. pmc Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
    Reid S Alisch
    Departments of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    BMC Med Genet 14:18. 2013
  2. ncbi request reprint The epigenetics of fragile X syndrome
    Stephen T Warren
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Cell Stem Cell 1:488-9. 2007
  3. ncbi request reprint RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
    Peng Jin
    Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
    Neuron 39:739-47. 2003
  4. ncbi request reprint Fragile X protein functions with lgl and the par complex in flies and mice
    Daniela C Zarnescu
    Department of Cell Biology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Dev Cell 8:43-52. 2005
  5. pmc Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome
    Bradford Coffee
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 71:923-32. 2002
  6. pmc Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome
    Christina Gross
    Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Neurosci 30:10624-38. 2010
  7. ncbi request reprint Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway
    Peng Jin
    Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, Georgia 30322, USA
    Nat Neurosci 7:113-7. 2004
  8. ncbi request reprint New insights into fragile X syndrome: from molecules to neurobehaviors
    Peng Jin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Trends Biochem Sci 28:152-8. 2003
  9. doi request reprint AsktheGeneticist: five years of online experience
    Catherine Tesla
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Genet Med 11:294-304. 2009
  10. pmc S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
    Usha Narayanan
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 283:18478-82. 2008

Collaborators

Detail Information

Publications41

  1. pmc Genome-wide analysis validates aberrant methylation in fragile X syndrome is specific to the FMR1 locus
    Reid S Alisch
    Departments of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    BMC Med Genet 14:18. 2013
    ..Although a dramatic increase in DNA methylation of the FMR1 full mutation allele is well documented, the extent to which these changes affect DNA methylation throughout the rest of the genome has gone unexplored...
  2. ncbi request reprint The epigenetics of fragile X syndrome
    Stephen T Warren
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Cell Stem Cell 1:488-9. 2007
  3. ncbi request reprint RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
    Peng Jin
    Department of Human Genetics, Emory University, Atlanta, GA 30322, USA
    Neuron 39:739-47. 2003
    ..These results demonstrate that neurodegenerative phenotype associated with fragile X premutation is indeed caused by the lengthened rCGG repeats and provide the first in vivo experimental demonstration of RNA-mediated neurodegeneration...
  4. ncbi request reprint Fragile X protein functions with lgl and the par complex in flies and mice
    Daniela C Zarnescu
    Department of Cell Biology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Dev Cell 8:43-52. 2005
    ..Our data suggest that Lgl may regulate Fmrp/mRNA sorting, transport, and anchoring via the PAR complex...
  5. pmc Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndrome
    Bradford Coffee
    Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 71:923-32. 2002
    ..The identification of intermediates in the heterochromatinization of FMR1 has enabled us to begin to dissect the epigenetics of silencing of a disease-related gene in its natural chromosomal context...
  6. pmc Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndrome
    Christina Gross
    Department of Cell Biology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Neurosci 30:10624-38. 2010
    ..Targeting excessive PI3K activity might thus be a potent therapeutic strategy for FXS...
  7. ncbi request reprint Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway
    Peng Jin
    Department of Human Genetics, Emory University, 615 Michael Street, Atlanta, Georgia 30322, USA
    Nat Neurosci 7:113-7. 2004
    ..Our results suggest that FMRP may regulate neuronal translation via microRNAs and links microRNAs with human disease...
  8. ncbi request reprint New insights into fragile X syndrome: from molecules to neurobehaviors
    Peng Jin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Trends Biochem Sci 28:152-8. 2003
    ....
  9. doi request reprint AsktheGeneticist: five years of online experience
    Catherine Tesla
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Genet Med 11:294-304. 2009
    ..To identify the genetic informational needs and assess the level of awareness about clinical genetic services among adults who use the internet...
  10. pmc S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascade
    Usha Narayanan
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    J Biol Chem 283:18478-82. 2008
    ..Together these data reveal a S6K1-PP2A signaling module regulating FMRP function and place FMRP phosphorylation in the mGluR-triggered signaling cascade required for protein-synthesis-dependent synaptic plasticity...
  11. pmc Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome
    Peng Jin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Neuron 55:556-64. 2007
    ..These findings support the disease mechanism of FXTAS of rCGG repeat sequestration of specific RBPs, leading to neuronal cell death, and implicate that Pur alpha plays an important role in the pathogenesis of FXTAS...
  12. ncbi request reprint The pathophysiology of fragile x syndrome
    Olga Penagarikano
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Annu Rev Genomics Hum Genet 8:109-29. 2007
    ..An advancing understanding of the pathophysiology of this disorder has led to promising strategies for pharmacologic interventions...
  13. pmc Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 146:1358-67. 2008
    ..We review the literature of FMR1 deletions and present this case in the context of other FMR1 deletions having mental retardation that may or may not have the classic fragile X phenotype...
  14. pmc Microarray-based mutation detection in the dystrophin gene
    Madhuri R Hegde
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Hum Mutat 29:1091-9. 2008
    ..This assay can be readily adopted by clinical molecular testing laboratories and represents a rapid, cost-effective approach for screening a large gene, such as dystrophin...
  15. pmc The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron development
    Robert Lu
    Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Proc Natl Acad Sci U S A 101:15201-6. 2004
    ....
  16. pmc Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function
    Gary J Bassell
    Department of Cell Biology and Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Neuron 60:201-14. 2008
    ..The understanding of FMRP function at synapses has led to rationale therapeutic approaches...
  17. pmc Microdeletions of 3q29 confer high risk for schizophrenia
    Jennifer Gladys Mulle
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 87:229-36. 2010
    ....
  18. pmc Empirical evaluation of oligonucleotide probe selection for DNA microarrays
    JENNIFER G MULLE
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, United States of America
    PLoS ONE 5:e9921. 2010
    ..These findings, when incorporated into future microarray probe selection algorithms, may improve microarray performance for a wide variety of applications...
  19. pmc Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia
    Daniel Moreno-De-Luca
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 87:618-30. 2010
    ..In addition, the phenotypic features of patients with this CNV are consistent with a contiguous gene syndrome that extends beyond RCAD, which is caused by HNF1B mutations only...
  20. ncbi request reprint A decade of molecular studies of fragile X syndrome
    William T O'donnell
    Howard Hughes Medical Institute and Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Annu Rev Neurosci 25:315-38. 2002
    ..If an appreciable portion of the total variance (in IQ) is due to sex linked genes, it is of more importance that a boy should have a clever mother than a clever father. Hogben 1932 (quoted in Lehrke 1974)..
  21. pmc Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors
    Mika Nakamoto
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Whitehead Biomedical Research Building, Atlanta, GA 30322, USA
    Proc Natl Acad Sci U S A 104:15537-42. 2007
    ....
  22. doi request reprint Identification of small molecules rescuing fragile X syndrome phenotypes in Drosophila
    Shuang Chang
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street Suite 300, Atlanta, Georgia 30322, USA
    Nat Chem Biol 4:256-63. 2008
    ..These results point to potential therapeutic approaches for treating fragile X syndrome...
  23. pmc Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Am J Hum Genet 85:503-14. 2009
    ..Given the trials now underway for possible FXS treatments, this method could be used in newborn or infant screening as a way of ensuring early interventions for FXS...
  24. ncbi request reprint Phosphorylation influences the translation state of FMRP-associated polyribosomes
    Stephanie Ceman
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Hum Mol Genet 12:3295-305. 2003
    ..Our data suggest that the phosphorylation may regulate FMRP and that the release of FMRP-induced translational suppression may involve a dephosphorylation signal...
  25. ncbi request reprint Development and characterization of antibodies that immunoprecipitate the FMR1 protein
    Stephanie Ceman
    Howard Hughes Medical Institute, Emory School of Medicine, Atlanta, GA, USA
    Methods Mol Biol 217:345-54. 2003
  26. ncbi request reprint RNA and microRNAs in fragile X mental retardation
    Peng Jin
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
    Nat Cell Biol 6:1048-53. 2004
    ..FMRP was also recently linked to the microRNA pathway. These advances provide mechanistic insight into this disorder, and into learning and memory in general...
  27. ncbi request reprint Modulating huntingtin half-life alters polyglutamine-dependent aggregate formation and cell toxicity
    Michael D Kaytor
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA
    J Neurochem 89:962-73. 2004
    ..Polyglutamine-induced neurotoxicity may therefore be triggered by non-aggregated protein, and aggregate formation itself may be a cellular defense mechanism...
  28. ncbi request reprint FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2A
    Usha Narayanan
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Neurosci 27:14349-57. 2007
    ..Collectively, these data reveal an immediate-early signaling pathway linking group I mGluR activity to rapid FMRP phosphorylation dynamics mediated by mTOR and PP2A...
  29. pmc Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males
    Stephen C Collins
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Am J Med Genet A 152:2512-20. 2010
    ..These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay...
  30. ncbi request reprint Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegeneration
    Meyer J Friedman
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, Georgia 30322, USA
    Nat Neurosci 10:1519-28. 2007
    ..Overexpression of HSPB1 or TFIIB alleviated mutant TBP-induced neuritic defects. These findings implicate the polyQ domain of TBP in transcriptional regulation and provide insight into the molecular pathogenesis of SCA17...
  31. ncbi request reprint Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction
    Bradford Coffee
    Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    Genet Med 8:628-34. 2006
    ..Beckwith-Wiedemann Syndrome is caused by defects in imprinted gene expression at 11p15. Currently, quantitative Southern analysis using DNA methylation-sensitive restriction enzymes is used in molecular diagnosis of this syndrome...
  32. doi request reprint Fragile X syndrome
    Kathryn B Garber
    Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Atlanta, GA 30322, USA
    Eur J Hum Genet 16:666-72. 2008
    ..The resulting over abundance of certain proteins results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype...
  33. ncbi request reprint Transcription, translation and fragile X syndrome
    Kathryn Garber
    Department of Human Genetics, 615 Michael Street, Room 300, Emory University, Atlanta, GA 30322, USA
    Curr Opin Genet Dev 16:270-5. 2006
    ..These studies provide new insights through which we can better understand the inactivation of the FMR1 gene and, in turn, the consequence of FMRP loss...
  34. ncbi request reprint Fragile X syndrome: an update and review for the primary pediatrician
    Jeannie Visootsak
    Departments of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA
    Clin Pediatr (Phila) 44:371-81. 2005
    ..Here the current state of knowledge is reviewed and a framework is provided for early recognition and diagnosis, along with counseling and treatment implications for the children and family members...
  35. pmc Replication stress induces tumor-like microdeletions in FHIT/FRA3B
    Sandra G Durkin
    Department of Human Genetics, University of Michigan, Ann Arbor, MI 48109 5618, USA
    Proc Natl Acad Sci U S A 105:246-51. 2008
    ....
  36. ncbi request reprint Gene expression profiles in a transgenic animal model of fragile X syndrome
    Velia D'Agata
    Blanchette Rockefeller Neurosciences Institute, West Virginia University, Rockville, MD 20850, USA
    Neurobiol Dis 10:211-8. 2002
    ..A number of differentially expressed genes associated with the fragile X syndrome phenotype have been previously involved in other memory or cognitive disorders...
  37. ncbi request reprint The fragile X mental retardation protein, FMRP, recognizes G-quartets
    Jennifer C Darnell
    The Rockefeller University, Laboratory of Molecular Neuro Oncology New York, New York 10021, USA
    Ment Retard Dev Disabil Res Rev 10:49-52. 2004
    ..Defects in the metabolism of this set of RNAs, presumably in the translation of their protein products, is likely to underlie the behavioral and cognitive changes seen in the disease...
  38. pmc Altered synaptic plasticity in a mouse model of fragile X mental retardation
    Kimberly M Huber
    Department of Neuroscience, Howard Hughes Medical Institute, Brown University, Providence, RI 02912, USA
    Proc Natl Acad Sci U S A 99:7746-50. 2002
    ..This finding indicates that FMRP plays an important functional role in regulating activity-dependent synaptic plasticity in the brain and suggests new therapeutic approaches for fragile X syndrome...
  39. ncbi request reprint The mGluR theory of fragile X mental retardation
    Mark F Bear
    The Picower Center for Learning and Memory, Howard Hughes Medical Institute and Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, MA 02139, USA
    Trends Neurosci 27:370-7. 2004
    ..The theory suggests new directions for basic research as well as novel therapeutic approaches for the treatment of humans with fragile X, the most frequent inherited cause of mental retardation and an identified cause of autism...
  40. ncbi request reprint Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathways
    Yuhei Nishimura
    Center for Autism Research and Treatment, Semel Institute for Neuroscience and Human Behavior, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA 90095, USA
    Hum Mol Genet 16:1682-98. 2007
    ..These results provide evidence that blood derived lymphoblastoid cells gene expression is likely to be useful for identifying etiological subsets of autism and exploring its pathophysiology...
  41. doi request reprint Neuroscience: fragile dopamine
    David Weinshenker
    Nature 455:607-8. 2008

Research Grants23

  1. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen T Warren; Fiscal Year: 2011
    ..Deep fundamental knowledge of a disease is the best course toward eventual therapeutics. ..
  2. Schizophrenia susceptibility by copy number variation in the Ashkenazim
    Stephen T Warren; Fiscal Year: 2010
    ..This study will not only be one of the first large-scale examinations of this type of variation in humans but may also identify variants that may influence whether or not an individual will suffer from SZ. ..
  3. Schizophrenia susceptibility by copy number variation in the Ashkenazim
    Stephen Warren; Fiscal Year: 2007
    ..This study will not only be one of the first large-scale examinations of this type of variation in humans but may also identify variants that may influence whether or not an individual will suffer from SZ. ..
  4. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen Warren; Fiscal Year: 2007
    ..Deep fundamental knowledge of a disease is the best course toward eventual therapeutics. ..
  5. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen Warren; Fiscal Year: 1993
    ....
  6. A PROGRAM OF INVESTIGATION INTO FRAGILE X SYNDROME
    Stephen Warren; Fiscal Year: 2005
    ..abstract_text> ..
  7. Epigenetic Marks as Peripheral Biomarkers of Autism
    Stephen T Warren; Fiscal Year: 2010
    ..These data not only could provide new insight into the causes of autism but could also result in a screening test for autism. ) ..
  8. Bipolar I susceptibility by copy number variation in an isolated population
    Stephen T Warren; Fiscal Year: 2010
    ....
  9. Bipolar I susceptibility by copy number variation in an isolated population
    Stephen Warren; Fiscal Year: 2009
    ....
  10. Schizophrenia susceptibility by copy number variation in the Ashkenazim
    Stephen Warren; Fiscal Year: 2009
    ..This study will not only be one of the first large-scale examinations of this type of variation in humans but may also identify variants that may influence whether or not an individual will suffer from SZ. ..
  11. MOLECULAR CLONING OF THE FRAGILE X SITE
    Stephen Warren; Fiscal Year: 1990
    ..The proposed experiments should result in cloned sequences at and very near the fragile X site which could then be used for further investigation into the mechanism of chromosome fragility as well as for clinical diagnosis...