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| William T O'donnellSummaryAffiliation: Emory University Country: USA Publications
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Publications
A decade of molecular studies of fragile X syndromeWilliam 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)..- RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in DrosophilaPeng 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... - Fragile X protein functions with lgl and the par complex in flies and miceDaniela 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... 
The fragile X protein controls microtubule-associated protein 1B translation and microtubule stability in brain neuron developmentRobert Lu
Department of Pharmacology, Emory University School of Medicine, Atlanta, GA 30322, USA
Proc Natl Acad Sci U S A 101:15201-6. 2004....- Excess phosphoinositide 3-kinase subunit synthesis and activity as a novel therapeutic target in fragile X syndromeChristina 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... - Histone modifications depict an aberrantly heterochromatinized FMR1 gene in fragile x syndromeBradford 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... - New insights into fragile X syndrome: from molecules to neurobehaviorsPeng Jin
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Trends Biochem Sci 28:152-8. 2003.... - Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathwayPeng 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... - Empirical evaluation of oligonucleotide probe selection for DNA microarraysJENNIFER 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... - Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndromePeng 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... - Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literatureBradford 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... - Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophreniaDaniel 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... - S6K1 phosphorylates and regulates fragile X mental retardation protein (FMRP) with the neuronal protein synthesis-dependent mammalian target of rapamycin (mTOR) signaling cascadeUsha 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... - Microarray-based mutation detection in the dystrophin geneMadhuri 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... 
Fragile X syndrome: loss of local mRNA regulation alters synaptic development and functionGary 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...- The pathophysiology of fragile x syndromeOlga 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... - The epigenetics of fragile X syndromeStephen T Warren
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Cell Stem Cell 1:488-9. 2007 - Microdeletions of 3q29 confer high risk for schizophreniaJennifer Gladys Mulle
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Am J Hum Genet 87:229-36. 2010.... - Identification of small molecules rescuing fragile X syndrome phenotypes in DrosophilaShuang 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... - Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptorsMika 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.... - Phosphorylation influences the translation state of FMRP-associated polyribosomesStephanie 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... - Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNABradford 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... - FMRP phosphorylation reveals an immediate-early signaling pathway triggered by group I mGluR and mediated by PP2AUsha 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... - Development and characterization of antibodies that immunoprecipitate the FMR1 proteinStephanie Ceman
Howard Hughes Medical Institute, Emory School of Medicine, Atlanta, GA, USA
Methods Mol Biol 217:345-54. 2003 - RNA and microRNAs in fragile X mental retardationPeng 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... - Modulating huntingtin half-life alters polyglutamine-dependent aggregate formation and cell toxicityMichael 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... - Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed malesStephen 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... - Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reactionBradford Coffee
Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Genet Med 8:628-34. 2006..Moreover, this approach can be modified to assess DNA methylation changes anywhere in the genome... - Polyglutamine domain modulates the TBP-TFIIB interaction: implications for its normal function and neurodegenerationMeyer 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... - Fragile X syndromeKathryn 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... - Fragile X syndrome: an update and review for the primary pediatricianJeannie 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... - Transcription, translation and fragile X syndromeKathryn 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... - Genome-wide expression profiling of lymphoblastoid cell lines distinguishes different forms of autism and reveals shared pathwaysYuhei 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... - The mGluR theory of fragile X mental retardationMark 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... - The fragile X mental retardation protein, FMRP, recognizes G-quartetsJennifer 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... - Gene expression profiles in a transgenic animal model of fragile X syndromeStephen T Warren
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... - Altered synaptic plasticity in a mouse model of fragile X mental retardationKimberly 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... - Neuroscience: fragile dopamineDavid Weinshenker
Nature 455:607-8. 2008 - Replication stress induces tumor-like microdeletions in FHIT/FRA3BSandra 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....