Mutant sodium channel for tumor therapy (2009)
Tannous, Bakhos A., Christensen, Adam P., Pike, Lisa, Wurdinger, Thomas, Perry, Katherine F., Saydam, Okay, ...
Rapid tumor cell swelling and bursting: beware of collateral damage- Response (2009)
Tannous, Bakhos A., Chiocca, E. Antonio, Jacobs, Andreas H., Corey, David P., Breakefield, Xandra O.
Hewett, Jeffrey W., Nery, Flávia C., Niland, Brian, Ge, Pei, Tan, Pamela, Hadwiger, Philipp, ...
Most cases of the dominantly inherited movement disorder, early onset torsion dystonia (DYT1) are caused by a mutant form of torsinA lacking a glutamic acid residue in the C-terminal region...
Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...
Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a 3 bp (ΔGAG) deletion, underlies dominantly inherited cases...
Kock, Norman, Naismith, Teresa V., Boston, Heather E., Ozelius, Laurie J., Corey, David P., Breakefield, Xandra O., ...
Four naturally occurring sequence variations have been found in the coding region of the DYT1 gene encoding torsinA. One of these, a three base pair (ΔGAG) deletion, underlies dominantly inherited...
Hedrich, Katja, Kann, Martin, Lanthaler, Andrea J., Dalski, Andreas, Eskelson, Cordula, Landt, Olfert, ...
Early-onset parkinsonism (EOP) may be associated with different mutations in the parkin gene, including exon deletions and duplications. To test for gene dosage alterations, we developed a new method...
Potential of gene therapy for brain tumors (2001)
Lam, Paula Y.P., Breakefield, Xandra O.
Brain tumors comprise a broad spectrum of biological and clinical entities making it unlikely for any single therapeutic approach to be universally applicable. In particular, malignant glioblastoma...
Hewett, Jeffrey, Gonzalez-Agosti, Charo, Slater, Damien, Ziefer, Philipp, Li, Sang, Bergeron, Daniele, ...
Early-onset torsion dystonia is a hereditary movement disorder thought to be caused by decreased release of dopamine into the basal ganglia, without apparent neuronal degeneration. Recent cloning of...
Aghi, Manish, Kramm, Christof M., Breakefield, Xandra O.
BACKGROUND: Although antifolates are popular agents for use in chemotherapy, they display minimal toxicity against slow-growing tumors and are toxic to actively replicating cells in normal tissues....
Liao, Wei-Chen, Chang, Wun-Shaing Wayne, Wu, Felicia Ying-Hsiueh, Aghi, Manish, Chou, Ting-Chao, Breakefield, Xandra O., ...
Breakefield, Xandra O., Ramesh, Vijaya, Kumar, S. M., Tang, Y., Giovannini, M.
Spontaneous schwannomas were detected in a transgenic murine model of NF2 by Magnetic Resonance imaging (MRI). rumors were detected in the central and peripheral nervous system, in smooth muscles of...
These studies were designed to characterize tumors in mouse models of NF2 and to evaluate vector mediated therapy. Magnetic resonance, bioluminescence and near-infrared imaging were used in...
Ozelius, Laurie J., Hewett, Jeffrey, Kramer, Patricia, Bressman, Susan B., Shalish, Christo, De Leon, Deborah, ...
Frim, David M., Uhler, Tara A., Galpern, Wendy R., Beal, M. Flint, Breakefield, Xandra O., Isacson, Ole
The trophism of brain-derived neurotrophic factor (BDNF) for dopaminergic cells in culture has led to significant interest in the role of BDNF in the etiology and potential treatment of Parkinson...
Structure of the human gene for monoamine oxidase type A (1991)
Chen, Zheng-Yi, Hotamisligil, Gokhan S., Huang, Jenq-Kuen, Wen, Lisa, Ezzeddine, Diala, Aydin-Muderrisoglu, Nese, ...
Monoamine oxidases, type A and type B, are principal enzymes for the degradation of biogenic amines, including catecholamines and serotonin. These isozymes have been implicated in neuropsychiatric...
Inherited Levels of A and B Types of Monoamine Oxidase Activity (1980)
Breakefield, Xandra O., Edelstein, Susan B.
In establishing the role of inherited variations in levels of monoamine oxidase (MAO) activity in neuropsychiatric diseases, it is important to measure levels of both A and B types of activity as...
Aboody, Karen S., Brown, Alice, Rainov, Nikolai G., Bower, Kate A., Liu, Shaoxiong, Yang, Wendy, ...
One of the impediments to the treatment of brain tumors (e.g., gliomas) has been the degree to which they expand, infiltrate surrounding tissue, and migrate widely into normal brain, usually...
Rage, Florence, Hill, Diane F., Sena-Esteves, Miguel, Breakefield, Xandra O., Coffey, Robert J., Costa, Maria E., ...
Precocious puberty of cerebral origin is a poorly understood disorder of human sexual development, brought about by the premature activation of those neurons that produce luteinizing...
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
Klein, Christine, Brin, Mitchell F., Kramer, Patricia, Sena-Esteves, Miguel, De Leon, Deborah, Doheny, Dana, ...
Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various...
FGF-2 regulation of neurogenesis in adult hippocampus after brain injury
Yoshimura, Shinichi, Takagi, Yasushi, Harada, Jun, Teramoto, Tetsuyuki, Thomas, Sunu S., Waeber, Christian, ...
Fibroblast growth factor-2 (FGF-2) promotes proliferation of neuroprogenitor cells in culture and is up-regulated within brain after injury. Using mice genetically deficient in FGF-2 (FGF-2−/−...
Sena-Esteves, Miguel, Saeki, Yoshinaga, Camp, Sara M., Chiocca, E. Antonio, Breakefield, Xandra O.
We report here on the development and characterization of a novel herpes simplex virus type 1 (HSV-1) amplicon-based vector system which takes advantage of the host range and retention properties of...
Yoshimura, Shinichi, Teramoto, Tetsuyuki, Whalen, Michael J., Irizarry, Michael C., Takagi, Yasushi, Qiu, Jianhua, ...
We studied the role of FGF-2 on regulation of neurogenesis and cell loss in the granule cell layer (GCL) of the hippocampal dentate gyrus after experimental traumatic brain injury (TBI). In both...
Breakefield, Xandra O., Landman, Otto E.
A temperature-sensitive divisionless mutant of Bacillus subtilis 168, tms-12, is shown to be defective in an early step in septum formation at the restrictive temperature. The nature of this defect...
Selection for Neuroblastoma Cells that Synthesize Certain Transmitters
Breakefield, Xandra O., Nirenberg, Marshall W.
A selection procedure was devised for neurons and related cells that depends upon the ability of the cells to synthesize certain amine neurotransmitters. The rationale for selection is that tyrosine...
TorsinA in the nuclear envelope
Naismith, Teresa V., Heuser, John E., Breakefield, Xandra O., Hanson, Phyllis I.
Early-onset torsion dystonia, a CNS-based movement disorder, is usually associated with a single amino acid deletion (ΔE302/303) in the protein torsinA. TorsinA is an AAA+ ATPase in the endoplasmic...
A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families
Klein, Christine, Schilling, Karla, Saunders-Pullman, Rachel J., Garrels, Jennifer, Breakefield, Xandra O., Brin, Mitchell F., ...
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on...
Developmental patterns of torsinA and torsinB expression
Vasudevan, Anju, Breakefield, Xandra O., Bhide, Pradeep G.
Early onset torsion dystonia is characterized by involuntary movements and distorted postures and is usually caused by a 3-bp (GAG) deletion in the DYT1 (TOR1A) gene. DYT1 codes for torsinA, a member...
Kwiatkowski, David J., Nygaard, Torbjoern G., Schuback, Deborah E., Perman, Scott, Trugman, Joel M., Bressman, Susan B., ...
Dopa-responsive dystonia is a clinical variant of idiopathic torsion dystonia that is distinguished from other forms of dystonia by the frequent cooccurrence of parkinsonism, diurnal fluctuation of...
Norrie disease gene is distinct from the monoamine oxidase genes
Sims, Katherine B., Ozelius, Laurie, Corey, Timothy, Rinehart, William B., Liberfarb, Ruth, Haines, Jonathan, ...
The genes for MAO-A and MAO-B appear to be very close to the Norrie disease gene, on the basis of loss and /or disruption of the MAO genes and activities in atypical Norrie disease patients deleted...
Ozelius, Laurie J., Kramer, Patricia L., De Leon, Deborah, Risch, Neil, Bressman, Susan B., Schuback, Deborah E., ...
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34....
A Novel Method for Imaging Apoptosis Using a Caspase-1 Near-Infrared Fluorescent Probe1
Messerli, Shanta M, Prabhakar, Shilpa, Tang, Yi, Shah, Khalid, Cortes, Maria L, Murthy, Vidya, ...
Here we describe a novel method for imaging apoptosis in cells using a near-infrared fluorescent (NIRF) probe selective for caspase-1 (interleukin 1β-converting enzyme, ICE). This biocompatible,...
Jacobs, Andreas, Breakefield, Xandra O, Fraefel, Cornel
Many properties of HSV-1 are especially suitable for using this virus as a vector to treat diseases affecting the central nervous system (CNS), such as Parkinson's disease or malignant gliomas. These...
Jacobs, Andreas, Breakefield, Xandra O, Fraefel, Cornel
The design of effective gene therapy strategies for brain tumors and other neurological disorders relies on the understanding of genetic and pathophysiological alterations associated with the...
Jacobs, Andreas, Dubrovin, Michael, Hewett, Jeff, Sena-Esteves, Miguel, Tan, Cui-Wen, Slack, Mark, ...
Current gene therapy technology is limited by the paucity of methodology for determining the location and magnitude of therapeutic transgene expression in vivo. We describe and validate a paradigm...
Aboody, Karen S., Brown, Alice, Rainov, Nikolai G., Bower, Kate A., Liu, Shaoxiong, Yang, Wendy, ...
One of the impediments to the treatment of brain tumors (e.g., gliomas) has been the degree to which they expand, infiltrate surrounding tissue, and migrate widely into normal brain, usually...
Rage, Florence, Hill, Diane F., Sena-Esteves, Miguel, Breakefield, Xandra O., Coffey, Robert J., Costa, Maria E., ...
Precocious puberty of cerebral origin is a poorly understood disorder of human sexual development, brought about by the premature activation of those neurons that produce luteinizing...
Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
Klein, Christine, Brin, Mitchell F., Kramer, Patricia, Sena-Esteves, Miguel, De Leon, Deborah, Doheny, Dana, ...
Hereditary autosomal dominant myoclonus dystonia (MD) is a movement disorder characterized by involuntary lightning jerks and dystonic movements and postures alleviated by alcohol. Although various...
FGF-2 regulation of neurogenesis in adult hippocampus after brain injury
Yoshimura, Shinichi, Takagi, Yasushi, Harada, Jun, Teramoto, Tetsuyuki, Thomas, Sunu S., Waeber, Christian, ...
Fibroblast growth factor-2 (FGF-2) promotes proliferation of neuroprogenitor cells in culture and is up-regulated within brain after injury. Using mice genetically deficient in FGF-2 (FGF-2−/−...
Sena-Esteves, Miguel, Saeki, Yoshinaga, Camp, Sara M., Chiocca, E. Antonio, Breakefield, Xandra O.
We report here on the development and characterization of a novel herpes simplex virus type 1 (HSV-1) amplicon-based vector system which takes advantage of the host range and retention properties of...
Yoshimura, Shinichi, Teramoto, Tetsuyuki, Whalen, Michael J., Irizarry, Michael C., Takagi, Yasushi, Qiu, Jianhua, ...
We studied the role of FGF-2 on regulation of neurogenesis and cell loss in the granule cell layer (GCL) of the hippocampal dentate gyrus after experimental traumatic brain injury (TBI). In both...
Breakefield, Xandra O., Landman, Otto E.
A temperature-sensitive divisionless mutant of Bacillus subtilis 168, tms-12, is shown to be defective in an early step in septum formation at the restrictive temperature. The nature of this defect...
Selection for Neuroblastoma Cells that Synthesize Certain Transmitters
Breakefield, Xandra O., Nirenberg, Marshall W.
A selection procedure was devised for neurons and related cells that depends upon the ability of the cells to synthesize certain amine neurotransmitters. The rationale for selection is that tyrosine...
TorsinA in the nuclear envelope
Naismith, Teresa V., Heuser, John E., Breakefield, Xandra O., Hanson, Phyllis I.
Early-onset torsion dystonia, a CNS-based movement disorder, is usually associated with a single amino acid deletion (ΔE302/303) in the protein torsinA. TorsinA is an AAA+ ATPase in the endoplasmic...
Lafrenière, Ronald G., MacDonald, Marcia L. E., Dubé, Marie-Pierre, MacFarlane, Julie, O’Driscoll, Mary, Brais, Bernard, ...
Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch sensation owing to reduction or absence of...
A Major Locus for Myoclonus-Dystonia Maps to Chromosome 7q in Eight Families
Klein, Christine, Schilling, Karla, Saunders-Pullman, Rachel J., Garrels, Jennifer, Breakefield, Xandra O., Brin, Mitchell F., ...
Myoclonus-dystonia (M-D) is an autosomal dominant disorder characterized by myoclonic and dystonic muscle contractions that are often responsive to alcohol. The dopamine D2 receptor gene (DRD2) on...
A Novel Method for Imaging Apoptosis Using a Caspase-1 Near-Infrared Fluorescent Probe1
Messerli, Shanta M, Prabhakar, Shilpa, Tang, Yi, Shah, Khalid, Cortes, Maria L, Murthy, Vidya, ...
Here we describe a novel method for imaging apoptosis in cells using a near-infrared fluorescent (NIRF) probe selective for caspase-1 (interleukin 1β-converting enzyme, ICE). This biocompatible,...
Jacobs, Andreas, Breakefield, Xandra O, Fraefel, Cornel
Many properties of HSV-1 are especially suitable for using this virus as a vector to treat diseases affecting the central nervous system (CNS), such as Parkinson's disease or malignant gliomas. These...
Jacobs, Andreas, Breakefield, Xandra O, Fraefel, Cornel
The design of effective gene therapy strategies for brain tumors and other neurological disorders relies on the understanding of genetic and pathophysiological alterations associated with the...
Jacobs, Andreas, Dubrovin, Michael, Hewett, Jeff, Sena-Esteves, Miguel, Tan, Cui-Wen, Slack, Mark, ...
Current gene therapy technology is limited by the paucity of methodology for determining the location and magnitude of therapeutic transgene expression in vivo. We describe and validate a paradigm...
Kwiatkowski, David J., Nygaard, Torbjoern G., Schuback, Deborah E., Perman, Scott, Trugman, Joel M., Bressman, Susan B., ...
Dopa-responsive dystonia is a clinical variant of idiopathic torsion dystonia that is distinguished from other forms of dystonia by the frequent cooccurrence of parkinsonism, diurnal fluctuation of...
Norrie disease gene is distinct from the monoamine oxidase genes
Sims, Katherine B., Ozelius, Laurie, Corey, Timothy, Rinehart, William B., Liberfarb, Ruth, Haines, Jonathan, ...
The genes for MAO-A and MAO-B appear to be very close to the Norrie disease gene, on the basis of loss and /or disruption of the MAO genes and activities in atypical Norrie disease patients deleted...
Ozelius, Laurie J., Kramer, Patricia L., De Leon, Deborah, Risch, Neil, Bressman, Susan B., Schuback, Deborah E., ...
The DYT1 gene responsible for early-onset, idiopathic torsion dystonia (ITD) in the Ashkenazi Jewish population, as well as in one large non-Jewish family, has been mapped to chromosome 9q32-34....
Sharma, Nutan, Hewett, Jeffrey, Ozelius, Laurie J., Ramesh, Vijaya, McLean, Pamela J., Breakefield, Xandra O., ...
TorsinA, a novel protein in which a mutation causes dominant, early onset torsion dystonia, may serve as a chaperone for misfolded proteins that require refolding or degradation. It has been...
A Highly Sensitive Assay for Monitoring the Secretory Pathway and ER Stress
Badr, Christian E., Hewett, Jeffrey W., Breakefield, Xandra O., Tannous, Bakhos A.
Hewett, Jeffrey W., Tannous, Bakhos, Niland, Brian P., Nery, Flavia C., Zeng, Juan, Li, Yuqing, ...
TorsinA is an AAA+ protein located predominantly in the lumen of the endoplasmic reticulum (ER) and nuclear envelope responsible for early onset torsion dystonia (DYT1). Most cases of this dominantly...
Live Visualization of Herpes Simplex Virus Type 1 Compartment Dynamics▿ †
De Oliveira, Anna Paula, Glauser, Daniel L., Laimbacher, Andrea S., Strasser, Regina, Schraner, Elisabeth M., Wild, Peter, ...
We have constructed a recombinant herpes simplex virus type 1 (HSV-1) that simultaneously encodes selected structural proteins from all three virion compartments—capsid, tegument, and...