XANDRA OWENS BREAKEFIELD

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Neural precursor cells and their role in neuro-oncology
    Khalid Shah
    Department of Neurology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA, USA
    Dev Neurosci 26:118-30. 2004
  2. pmc Healing genes in the nervous system
    Xandra O Breakefield
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Neuron 68:178-81. 2010
  3. pmc Glioblastoma microvesicles transport RNA and proteins that promote tumour growth and provide diagnostic biomarkers
    Johan Skog
    Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, 149 13th Street, Charlestown, MA 02129, USA
    Nat Cell Biol 10:1470-6. 2008
  4. pmc TorsinA participates in endoplasmic reticulum-associated degradation
    Flavia C Nery
    1 Neuroscience Center, Department of Neurology, and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02114, USA 2
    Nat Commun 2:393. 2011
  5. pmc Stochastic model of Tsc1 lesions in mouse brain
    Shilpa Prabhakar
    Molecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Massachusetts General Hospital, and Program in Neuroscience, Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 8:e64224. 2013
  6. pmc Role of exosomes/microvesicles in the nervous system and use in emerging therapies
    Charles Pin Kuang Lai
    Department of Neurology, Neuroscience Center, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School Boston, MA, USA
    Front Physiol 3:228. 2012
  7. pmc RNA expression patterns in serum microvesicles from patients with glioblastoma multiforme and controls
    Mikkel Noerholm
    Department of Neurology, Neurosurgery and Radiology, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    BMC Cancer 12:22. 2012
  8. ncbi request reprint The pathophysiological basis of dystonias
    Xandra O Breakefield
    Department of Neurology and Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nat Rev Neurosci 9:222-34. 2008
  9. ncbi request reprint HSV-1 virions engineered for specific binding to cell surface receptors
    Paola Grandi
    Department of Neurology and Department of Radiology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, MA 02129, USA
    Mol Ther 9:419-27. 2004
  10. ncbi request reprint Intravascular delivery of neural stem cell lines to target intracranial and extracranial tumors of neural and non-neural origin
    Alice B Brown
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Gene Ther 14:1777-85. 2003

Research Grants

  1. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 1993
  2. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 2001
  3. Tumor exosomes as agents of genetic change
    Xandra Breakefield; Fiscal Year: 2009
  4. Tumor exosomes as agents of genetic change
    XANDRA OWENS BREAKEFIELD; Fiscal Year: 2010
  5. Visualizing synaptic circuitry in the retina
    Xandra Breakefield; Fiscal Year: 2006
  6. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2003
  7. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2005
  8. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2006
  9. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 2000
  10. IDENTIFICATION OF THE HUMAN DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 1991

Detail Information

Publications71

  1. ncbi request reprint Neural precursor cells and their role in neuro-oncology
    Khalid Shah
    Department of Neurology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA, USA
    Dev Neurosci 26:118-30. 2004
    ..Examples are provided of monitoring migration of NPCs by bioluminescence imaging in living animals and of using them to deliver the apoptotic protein, TRAIL, to kill tumor cells...
  2. pmc Healing genes in the nervous system
    Xandra O Breakefield
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Neuron 68:178-81. 2010
    ....
  3. pmc Glioblastoma microvesicles transport RNA and proteins that promote tumour growth and provide diagnostic biomarkers
    Johan Skog
    Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, 149 13th Street, Charlestown, MA 02129, USA
    Nat Cell Biol 10:1470-6. 2008
    ..Thus, tumour-derived microvesicles may provide diagnostic information and aid in therapeutic decisions for cancer patients through a blood test...
  4. pmc TorsinA participates in endoplasmic reticulum-associated degradation
    Flavia C Nery
    1 Neuroscience Center, Department of Neurology, and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School, Boston, Massachusetts 02114, USA 2
    Nat Commun 2:393. 2011
    ..Therefore, compromised ERAD function in the cells of DYT1 patients may increase sensitivity to endoplasmic reticulum stress with consequent alterations in neuronal function contributing to the disease state...
  5. pmc Stochastic model of Tsc1 lesions in mouse brain
    Shilpa Prabhakar
    Molecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Massachusetts General Hospital, and Program in Neuroscience, Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 8:e64224. 2013
    ..This model provides a valuable and unique addition for therapeutic assessment...
  6. pmc Role of exosomes/microvesicles in the nervous system and use in emerging therapies
    Charles Pin Kuang Lai
    Department of Neurology, Neuroscience Center, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School Boston, MA, USA
    Front Physiol 3:228. 2012
    ....
  7. pmc RNA expression patterns in serum microvesicles from patients with glioblastoma multiforme and controls
    Mikkel Noerholm
    Department of Neurology, Neurosurgery and Radiology, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    BMC Cancer 12:22. 2012
    ..RNA from exosomes and other microvesicles contain transcripts of tumour origin. In this study we sought to identify biomarkers of glioblastoma multiforme in microvesicle RNA from serum of affected patients...
  8. ncbi request reprint The pathophysiological basis of dystonias
    Xandra O Breakefield
    Department of Neurology and Radiology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Nat Rev Neurosci 9:222-34. 2008
    ....
  9. ncbi request reprint HSV-1 virions engineered for specific binding to cell surface receptors
    Paola Grandi
    Department of Neurology and Department of Radiology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, MA 02129, USA
    Mol Ther 9:419-27. 2004
    ....
  10. ncbi request reprint Intravascular delivery of neural stem cell lines to target intracranial and extracranial tumors of neural and non-neural origin
    Alice B Brown
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02115, USA
    Hum Gene Ther 14:1777-85. 2003
    ....
  11. ncbi request reprint Dynamics of transgene expression in human glioblastoma cells mediated by herpes simplex virus/adeno-associated virus amplicon vectors
    Paula Lam
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Boston, MA 02129, USA
    Hum Gene Ther 13:2147-59. 2002
    ..Taken together, these data support employing AAV ITRs, in the context of HSV-1 amplicon vectors, to enhance short-term levels of transgene expression...
  12. pmc Mutant torsinA interferes with protein processing through the secretory pathway in DYT1 dystonia cells
    Jeffrey W Hewett
    Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 104:7271-6. 2007
    ..These studies demonstrate the exquisite sensitivity of this reporter system for quantitation of processing through the secretory pathway and support a role for torsinA as an ER chaperone protein...
  13. ncbi request reprint Molecular cloning and expression of rat torsinA in the normal and genetically dystonic (dt) rat
    Philipp Ziefer
    Molecular Neurogenetics Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Brain Res Mol Brain Res 101:132-5. 2002
    ..5 kb. In situ hybridization reveals a widespread distribution of torsinA mRNA within brain. No mutations were identified in the coding region of the gene in the genetically dystonic (dt) rat...
  14. ncbi request reprint Dopamine release is impaired in a mouse model of DYT1 dystonia
    Aygul Balcioglu
    MassGeneral Institute for Neurodegenerative Disease, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA
    J Neurochem 102:783-8. 2007
    ..The defect in DA release as observed may contribute to the abnormalities in motor learning as previously documented in this transgenic mouse model, and may contribute to the clinical symptoms of the human disorder...
  15. ncbi request reprint TorsinA and early-onset torsion dystonia
    D Cristopher Bragg
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, USA
    Adv Neurol 94:87-93. 2004
  16. ncbi request reprint Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier
    Norman Kock
    Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
    Hum Mol Genet 15:1355-64. 2006
    ..They also suggest possible connections between the allelic polymorphism at residue 216 and the penetrance of DYT1 dystonia, as well as a possible role for this polymorphism in related disease states...
  17. ncbi request reprint Potentiated gene delivery to tumors using herpes simplex virus/Epstein-Barr virus/RV tribrid amplicon vectors
    J├╝rgen A Hampl
    Molecular Neurogenetics Unit, Department of Neurology and Radiology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA
    Hum Gene Ther 14:611-26. 2003
    ..The application of this system, which can integrate a transgene cassette into tumors with therapeutic bystander effects, could increase the local amplification effect to a level of clinical relevance...
  18. ncbi request reprint Herpes simplex virus/adeno-associated virus hybrid vectors for gene transfer to neurons. Preparation and use
    Lauren C Costantini
    Neuroregeneration Laboratory, Harvard Medical School, McLean Hospital, Belmont, MA, USA
    Methods Mol Med 69:461-79. 2002
  19. ncbi request reprint TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress
    Jeffrey Hewett
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USA
    J Neurosci Res 72:158-68. 2003
    ..Mutant torsinA may interfere with and/or compromise ER functions, especially in dopaminergic neurons, which have high levels of torsinA and are intrinsically vulnerable to oxidative stress...
  20. pmc TorsinA binds the KASH domain of nesprins and participates in linkage between nuclear envelope and cytoskeleton
    Flavia C Nery
    Molecular Neurogenetics Unit, Department of Neurology and Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    J Cell Sci 121:3476-86. 2008
    ....
  21. ncbi request reprint TorsinB--perinuclear location and association with torsinA
    Jeffrey W Hewett
    Departments of Neurology and Radiology, Molecular Neurogenetics Unit, Massachusetts General Hospital, 13th Street, Charlestown, MA 02129, USA
    J Neurochem 89:1186-94. 2004
    ..We conclude that torsinB and torsinA are localized in overlapping cell compartments within the same protein complex, and thus may carry out related functions in vivo...
  22. ncbi request reprint Targeting HSV amplicon vectors
    Paola Grandi
    Departments of Neurology and Radiology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Charlestown, MA 02129, USA
    Methods 33:179-86. 2004
    ..Retargeted vectors can provide an additional tool for increasing the efficiency of gene delivery to specific cell types...
  23. ncbi request reprint Modified herpes simplex virus delivery of enhanced GFP into the central nervous system
    Vladislav M Sandler
    HHMI, Children s Hospital, Boston, MA, USA
    J Neurosci Methods 121:211-9. 2002
    ..We conclude that the HSV-1 amplicon is a valuable tool for gene delivery in the rat central nervous system...
  24. ncbi request reprint The early onset dystonia protein torsinA interacts with kinesin light chain 1
    Christoph Kamm
    Molecular Neurogenetics Unit, Departments of Neurology and Radiology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA 02114, USA
    J Biol Chem 279:19882-92. 2004
    ..These studies suggest that wild-type torsinA undergoes anterograde transport along microtubules mediated by kinesin and may act as a molecular chaperone regulating kinesin activity and/or cargo binding...
  25. ncbi request reprint Improved HSV-1 amplicon packaging system using ICP27-deleted, oversized HSV-1 BAC DNA
    Yoshinaga Saeki
    Molecular Neuro Oncology Lab, Department of Neurosurgery, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA, USA
    Methods Mol Med 76:51-60. 2003
  26. ncbi request reprint Targeted integration of functional human ATM cDNA into genome mediated by HSV/AAV hybrid amplicon vector
    Maria L Cortes
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Mol Ther 16:81-8. 2008
    ....
  27. pmc siRNA knock-down of mutant torsinA restores processing through secretory pathway in DYT1 dystonia cells
    Jeffrey W Hewett
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Mol Genet 17:1436-45. 2008
    ..The ability of allele-specific siRNA for torsinADeltaE to normalize secretory function in DYT1 patient cells supports its potential role as a therapeutic agent in early onset torsion dystonia...
  28. ncbi request reprint In vivo imaging of S-TRAIL-mediated tumor regression and apoptosis
    Khalid Shah
    Center for Molecular Imaging Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Mol Ther 11:926-31. 2005
    ..The use of S-TRAIL as a therapeutic protein and the ability to image noninvasively both apoptosis and any other cellular events in real time have important clinical implications...
  29. ncbi request reprint Treatment of schwannomas with an oncolytic recombinant herpes simplex virus in murine models of neurofibromatosis type 2
    Shanta M Messerli
    Molecular Neurogenetics Unit, Department of Neurology, Harvard Medical School, and Department of Radiology, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Gene Ther 17:20-30. 2006
    ....
  30. ncbi request reprint Codon-optimized Gaussia luciferase cDNA for mammalian gene expression in culture and in vivo
    Bakhos A Tannous
    Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Mol Ther 11:435-43. 2005
    ....
  31. pmc Developmental patterns of torsinA and torsinB expression
    Anju Vasudevan
    Developmental Neurobiology, Massachusetts General Hospital, 13th Street, Building 149, 6th Floor, Charlestown, MA 02129, USA
    Brain Res 1073:139-45. 2006
    ....
  32. ncbi request reprint HSV amplicon vectors for cancer therapy
    Khalid Shah
    Center for Molecular Imaging Research and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02129, USA
    Curr Gene Ther 6:361-70. 2006
    ..Amplicon vectors have also proven to be a versatile tool to explore imaging modalities to monitor gene delivery and tumor responses to therapeutic intervention...
  33. pmc miR-296 regulates growth factor receptor overexpression in angiogenic endothelial cells
    Thomas Wurdinger
    Department of Neurology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA 02115, USA
    Cancer Cell 14:382-93. 2008
    ..Furthermore, inhibition of miR-296 with antagomirs reduces angiogenesis in tumor xenografts in vivo...
  34. pmc A highly sensitive assay for monitoring the secretory pathway and ER stress
    Christian E Badr
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, United States of America Program in Neuroscience, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 2:e571. 2007
    ..We have developed a highly sensitive assay to monitor processing of proteins through the secretory pathway and endoplasmic reticulum (ER) stress in real-time based on the naturally secreted Gaussia luciferase (Gluc)...
  35. pmc Preventing growth of brain tumors by creating a zone of resistance
    Casey A Maguire
    Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts 02129, USA
    Mol Ther 16:1695-702. 2008
    ..To our knowledge this is the first direct demonstration of the efficacy of targeting gene delivery exclusively to normal brain cells for brain tumor therapy...
  36. pmc A secreted luciferase for ex vivo monitoring of in vivo processes
    Thomas Wurdinger
    Molecular Neurogenetics Unit, Department of Neurology, Harvard Medical School, 149 13th St, Charlestown, Massachusetts 02129, USA
    Nat Methods 5:171-3. 2008
    ....
  37. ncbi request reprint Glioma therapy and real-time imaging of neural precursor cell migration and tumor regression
    Khalid Shah
    Department of Neurology, Massachusetts General Hospital East, Harvard Medical School, 13th Street, Building 149, Charlestown, MA 02129, USA
    Ann Neurol 57:34-41. 2005
    ..These studies demonstrate the potential of NPCs as therapeutically effective delivery vehicles for the treatment of gliomas and also provide important tools to evaluate the migration of NPCs and changes in glioma burden in vivo...
  38. ncbi request reprint Herpes simplex virus type 1 amplicons and their hybrid virus partners, EBV, AAV, and retrovirus
    Angelika Oehmig
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02129, USA
    Curr Gene Ther 4:385-408. 2004
    ....
  39. ncbi request reprint A heteroplasmic mitochondrial complex I gene mutation in adult-onset dystonia
    David K Simon
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    Neurogenetics 4:199-205. 2003
    ..01). This difference remains significant even after excluding the index patient (P=0.04). These data suggest that, among haplogroup H subjects, the presence of the A3796G mutation increases the risk of developing adult-onset dystonia...
  40. ncbi request reprint TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion
    Kevin Rostasy
    Pediatric Neurology Floating Hospital, Boston, MA, USA
    Neurobiol Dis 12:11-24. 2003
    ....
  41. ncbi request reprint Single HSV-amplicon vector mediates drug-induced gene expression via dimerizer system
    Samuel Wang
    Department of Neurology, and Center for Molecular Imaging Research, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129, USA
    Mol Ther 7:790-800. 2003
    ..Gene induction in several neuronal models, including primary cell culture and organotypic cultures, as well as in rodent brain, was observed...
  42. ncbi request reprint Distribution and ultrastructural localization of torsinA immunoreactivity in the human brain
    Sarah J Augood
    Neurology Service, Massachusetts General Hospital and Harvard Medical School, CNY 114 2300, 114 16th Street, Charlestown, MA 02129, USA
    Brain Res 986:12-21. 2003
    ....
  43. ncbi request reprint Dopamine transmission in DYT1 dystonia
    Sarah J Augood
    Center for Aging, Genetics, and Neurodegeneration, Massachusetts General Hospital, Charlestown, Massachusetts, USA
    Adv Neurol 94:53-60. 2004
  44. ncbi request reprint In vivo imaging of HIV protease activity in amplicon vector-transduced gliomas
    Khalid Shah
    Center for Molecular Imaging Research, Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02129, USA
    Cancer Res 64:273-8. 2004
    ..These findings may be directly applicable in using viral protease expression as a transgene marker in tumor therapy and may have implications in testing the efficacy of HIV-1PR inhibitors in vivo...
  45. ncbi request reprint Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA
    D Cristopher Bragg
    Departments of Neurology and Radiology Massachusetts General Hospital, Charlestown, MA 02129, USA
    Mol Cell Neurosci 27:417-26. 2004
    ..These results thus indicate that torsinADeltaE must achieve a specific conformation to induce formation of intracellular membrane inclusions...
  46. ncbi request reprint Inducible release of TRAIL fusion proteins from a proapoptotic form for tumor therapy
    Khalid Shah
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA
    Cancer Res 64:3236-42. 2004
    ..This study serves as a template for design of recombinant proteins to enhance and control apoptosis of tumor cells via specific viral proteases and for use of viral proteases as in vivo reporters for cancer therapy...
  47. ncbi request reprint Herpes simplex virus type 1 amplicon vector-mediated gene transfer to muscle
    Yaming Wang
    Department of Anesthesia, Brigham and Women s Hospital, Massachusetts General Hospital, Boston, MA 02115, USA
    Hum Gene Ther 13:261-73. 2002
    ..We conclude that the HSV-1 amplicon vector is a promising vehicle for gene delivery in DMD. However, new strategies need to be evaluated to increase the stability of transgene expression...
  48. pmc Mutant sodium channel for tumor therapy
    Bakhos A Tannous
    Department of Neurology, Molecular Neurogenetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02129, USA
    Mol Ther 17:810-9. 2009
    ..The advantage of this direct mode of tumor therapy is that all types of tumor cells become susceptible and death is rapid with no time for the tumor cells to become resistant...
  49. ncbi request reprint Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm
    Puneet Opal
    Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA
    Mov Disord 17:339-45. 2002
    ..We conclude that marked phenotypic heterogeneity characterizes some families with DYT1 dystonia, suggesting a role for genetic, environmental, or other modifiers. These findings have implications for genetic testing and counseling...
  50. ncbi request reprint Generation of stable retrovirus packaging cell lines after transduction with herpes simplex virus hybrid amplicon vectors
    Miguel Sena-Esteves
    Molecular Neurogenetics Unit and Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA 02129, USA
    J Gene Med 4:229-39. 2002
    ..Effective development of new retrovirus producer cells with enhanced biologic properties may require the testing of a large number of different cell types, and a quick and efficient method to generate them is needed...
  51. ncbi request reprint Update on herpesvirus amplicon vectors
    Angelika Oehmig
    Department of Neurology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    Mol Ther 10:630-43. 2004
  52. ncbi request reprint Impaired motor learning in mice expressing torsinA with the DYT1 dystonia mutation
    Nutan Sharma
    Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Neurosci 25:5351-5. 2005
    ..Together, these data suggest that these transgenic mice provide a useful model of the DeltaGAG carrier state that can be used to probe genetic and environmental factors that can trigger the dystonic state...
  53. ncbi request reprint RNAi blocks DYT1 mutant torsinA inclusions in neurons
    Norman Kock
    Departments of Neurology and Radiology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, USA
    Neurosci Lett 395:201-5. 2006
    ..Vector-delivered siRNAs have the potential to decrease the adverse effects of this mutant protein in neurons without affecting wild-type protein...
  54. ncbi request reprint Dystonia-causing mutant torsinA inhibits cell adhesion and neurite extension through interference with cytoskeletal dynamics
    Jeffrey W Hewett
    Molecular Neurogenetics Unit, Departments of Neurology and Radiology, Massachusetts General Hospital, and Program in Neuroscience, Harvard Medical School, Boston, MA 02114, USA
    Neurobiol Dis 22:98-111. 2006
    ....
  55. ncbi request reprint Degradation of fibrillar collagen in a human melanoma xenograft improves the efficacy of an oncolytic herpes simplex virus vector
    Trevor D McKee
    Edwin L Steele Laboratory, Department of Radiation Oncology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachussetts 02114, USA
    Cancer Res 66:2509-13. 2006
    ..Thus, fibrillar collagen can be a formidable barrier to viral distribution and matrix-modifying treatments can significantly enhance the therapeutic response...
  56. pmc A novel method for imaging apoptosis using a caspase-1 near-infrared fluorescent probe
    Shanta M Messerli
    Departments of Neurology and Radiology, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, MA 02115, USA
    Neoplasia 6:95-105. 2004
    ..This novel ICE-NIRF probe should prove useful in monitoring endogenous and vector-expressed caspase-1 activity, and potentially apoptosis in cell culture and in vivo...
  57. ncbi request reprint Critical issues in gene therapy for neurologic disease
    Gary Hsich
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, MA 02114, USA
    Hum Gene Ther 13:579-604. 2002
    ....
  58. pmc FGF-2 regulates neurogenesis and degeneration in the dentate gyrus after traumatic brain injury in mice
    Shinichi Yoshimura
    Neuroscience Center, Radiology Department, Massachusetts General Hospital and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USA
    J Clin Invest 112:1202-10. 2003
    ..These results suggest that FGF-2 upregulates neurogenesis and protects neurons against degeneration in the adult hippocampus after TBI, and that FGF-2 supplementation via gene transfer can reduce GCL degeneration after TBI...
  59. ncbi request reprint Refined linkage to the RDP/DYT12 locus on 19q13.2 and evaluation of GRIK5 as a candidate gene
    Christoph Kamm
    Molecular Neurogenetics Unit, Department of Neurology, Neuroscience Program, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Mov Disord 19:845-7. 2004
    ..9 cM interval flanked by markers D19S224 and D19S900. Evaluation of a positional candidate gene, the glutamate receptor subunit GRIK5, revealed no mutations...
  60. pmc Microfluidic isolation and transcriptome analysis of serum microvesicles
    Chihchen Chen
    BioMEMS Resource Center, Center for Engineering in Medicine and Surgical Services, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA
    Lab Chip 10:505-11. 2010
    ..RNA of high quality can be extracted from these microvesicles providing a source of information about the genetic status of tumors to serve as biomarkers for diagnosis and prognosis of cancer...
  61. pmc Downregulated microRNA-200a in meningiomas promotes tumor growth by reducing E-cadherin and activating the Wnt/beta-catenin signaling pathway
    Okay Saydam
    Department of Neurology, Massachusetts General Hospital, and Neuroscience Program, Harvard Medical School, Boston, Massachusetts 02129, USA
    Mol Cell Biol 29:5923-40. 2009
    ....
  62. ncbi request reprint Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations
    Christine Klein
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 52:675-9. 2002
    ..In both of the latter families, we also found a mutation of SGCE. The molecular mechanisms through which the detected mutations may contribute to myoclonus-dystonia remain to be determined...
  63. pmc Live visualization of herpes simplex virus type 1 compartment dynamics
    Anna Paula de Oliveira
    Institute of Virology, University of Zurich, Winterthurerstrasse 266a, CH 8057 Zurich, Switzerland
    J Virol 82:4974-90. 2008
    ..Similar strategies can also be applied to assess other dynamic events in the virus life cycle, such as entry and trafficking...
  64. ncbi request reprint TorsinA and heat shock proteins act as molecular chaperones: suppression of alpha-synuclein aggregation
    Pamela J McLean
    Alzheimer s Disease Research Unit, Center for Aging, Genetics and Neurodegeneration, Massachusetts General Hospital East, Charlestown, Massachusetts 02129, USA
    J Neurochem 83:846-54. 2002
    ..Moreover, these data support a role for chaperone proteins, including torsinA and heat shock proteins, in cellular responses to neurodegenerative inclusions...
  65. ncbi request reprint HSV-1 amplicon peptide display vector
    Matthew A Spear
    Gene Therapy Program, Radiation Oncology, UCSD Cancer Center, UCSD Medical Center, University of California San Diego, MC 8757, 200 West Arbor Drive, La Jolla, CA, USA
    J Virol Methods 107:71-9. 2003
    ....
  66. ncbi request reprint Viral vectors for gene delivery to the nervous system
    Beverly L Davidson
    Program in Gene Therapy, Department of Internal Medicine, Roy J and Lucille A Carver College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
    Nat Rev Neurosci 4:353-64. 2003
  67. ncbi request reprint Metabolic biotinylation of cell surface receptors for in vivo imaging
    Bakhos A Tannous
    Center for Molecular Imaging Research, Massachusetts General Hospital East, Building 149, 13th Street, Charlestown, Massachusetts 02129, USA
    Nat Methods 3:391-6. 2006
    ..This BAP-TM allows noninvasive real-time imaging of any cell type transduced to express this reporter protein in culture or in vivo...
  68. ncbi request reprint Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    Martin Kann
    Department of Neurology, Medical University of Lubeck, Lubeck, Germany
    Ann Neurol 51:621-5. 2002
    ..In summary, parkin mutations accounted for a low but significant percentage of early-onset parkinsonism patients in a community-derived sample...
  69. pmc Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates
    Ronald G Lafreniere
    Xenon Genetics Research, Xenon Genetics Inc, Burnaby, British Columbia V5G 4W8, Canada
    Am J Hum Genet 74:1064-73. 2004
    ..The HSN2 protein may play a role in the development and/or maintenance of peripheral sensory neurons or their supporting Schwann cells...
  70. pmc TorsinA in the nuclear envelope
    Teresa V Naismith
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Proc Natl Acad Sci U S A 101:7612-7. 2004
    ..These results suggest that changes in interactions involving torsinA in the NE could be important for the pathogenesis of dystonia and point to torsinA and related proteins as a class of ATPases that may operate in the NE...

Research Grants25

  1. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 1993
    ..Eventually this work will lead to identification of the dystonia gene and understanding of its function, which in turn should provide insight into the molecular etiology of this disease state and help in designing new therapies...
  2. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 2001
    ..These studies should provide us with insights into the possible function of dystonin in the basal ganglia. ..
  3. Tumor exosomes as agents of genetic change
    Xandra Breakefield; Fiscal Year: 2009
    ..The priority score reflects the average of all the scores given by the full committee after a thorough discussion. ..
  4. Tumor exosomes as agents of genetic change
    XANDRA OWENS BREAKEFIELD; Fiscal Year: 2010
    ..abstract_text> ..
  5. Visualizing synaptic circuitry in the retina
    Xandra Breakefield; Fiscal Year: 2006
    ..abstract_text> ..
  6. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2003
    ..Dystonia represents a special class of neurologic diseases, which do not manifest apparent neurodegeneration. This class of diseases may be amenable to therapy informed by the molecular etiology of dysfunction at the cellular level. ..
  7. Molecular Genetics of Inherited Neurological Diseases
    Xandra Breakefield; Fiscal Year: 2005
    ..Collectively these studies provide a concerted effort towards understanding the neurologic functions of NF2 and TSC genes and treating disease manifestations associated with these diseases. ..
  8. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2006
    ..Dystonia represents a special class of neurologic diseases, which do not manifest apparent neurodegeneration. This class of diseases may be amenable to therapy informed by the molecular etiology of dysfunction at the cellular level. ..
  9. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 2000
    ..These studies should provide us with insights into the possible function of dystonin in the basal ganglia. ..
  10. IDENTIFICATION OF THE HUMAN DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 1991
    ..Eventually this work will lead to identification of the dystonia gene and understanding of its function, which in turn should provide insight into the molecular etiology of this disease state and help in designing new therapies...
  11. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2004
    ..Dystonia represents a special class of neurologic diseases, which do not manifest apparent neurodegeneration. This class of diseases may be amenable to therapy informed by the molecular etiology of dysfunction at the cellular level. ..
  12. Targeted Gene Therapy for Neurologic disease
    Xandra Breakefield; Fiscal Year: 2005
    ..abstract_text> ..
  13. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2005
    ..Dystonia represents a special class of neurologic diseases, which do not manifest apparent neurodegeneration. This class of diseases may be amenable to therapy informed by the molecular etiology of dysfunction at the cellular level. ..
  14. Characterization of Dystonia Gene and Protein
    Xandra Breakefield; Fiscal Year: 2002
    ..Dystonia represents a special class of neurologic diseases, which do not manifest apparent neurodegeneration. This class of diseases may be amenable to therapy informed by the molecular etiology of dysfunction at the cellular level. ..
  15. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 2001
    ..These studies should provide us with insights into the possible function of dystonin in the basal ganglia. ..
  16. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 2001
    ..These studies should provide us with insights into the possible function of dystonin in the basal ganglia. ..
  17. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 1992
    ..Eventually this work will lead to identification of the dystonia gene and understanding of its function, which in turn should provide insight into the molecular etiology of this disease state and help in designing new therapies...
  18. IDENTIFICATION OF THE DYSTONIA GENE
    Xandra Breakefield; Fiscal Year: 1999
    ..These studies should provide us with insights into the possible function of dystonin in the basal ganglia. ..