Search Results - "Noebels, JL"

Targeting Epilepsy Genes by Noebels, Jeffrey L

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Visualization of transmitter release with zinc fluorescence detection at the mouse hippocampal mossy fibre synapse by Qian, Jing, Noebels, Jeffrey L.

“…Exocytosis of synaptic vesicle contents defines the quantal nature of neurotransmitter release. Here we developed a technique to directly assess exocytosis by…”
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The biology of epilepsy genes by NOEBELS, Jeffrey L

“…Mutations in over 70 genes now define biological pathways leading to epilepsy, an episodic dysrhythmia of the cerebral cortex marked by abnormal network…”
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Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy by Cobos, Inma, Rubenstein, John L R, Calcagnotto, Maria Elisa, Vilaythong, Alex J, Thwin, Myo T, Noebels, Jeffrey L, Baraban, Scott C

“…Dlx homeodomain transcription factors are essential during embryonic development for the production of forebrain GABAergic interneurons. Here we show that Dlx1…”
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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice by Collins, Ann L., Levenson, Jonathan M., Vilaythong, Alexander P., Richman, Ronald, Armstrong, Dawna L., Noebels, Jeffrey L., David Sweatt, J., Zoghbi, Huda Y.

“…Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2), encoding a transcriptional repressor, cause Rett syndrome and a variety of related…”
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ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy by Senechal, Kristen R., Thaller, Christina, Noebels, Jeffrey L.

“…Mutations in LGI1 have been linked to autosomal dominant partial epilepsy with auditory features (ADPEAF), an unusual inherited human partial epilepsy…”
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Mice with Truncated MeCP2 Recapitulate Many Rett Syndrome Features and Display Hyperacetylation of Histone H3 by Shahbazian, Mona D., Young, Juan I., Yuva-Paylor, Lisa A., Spencer, Corinne M., Antalffy, Barbara A., Noebels, Jeffrey L., Armstrong, Dawna L., Paylor, Richard, Zoghbi, Huda Y.

“…Mutations in the methyl-CpG binding protein 2 ( MECP2) gene cause Rett syndrome (RTT), a neurodevelopmental disorder characterized by the loss of language and…”
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Glutamate transporter mRNA expression in proliferative zones of the developing and adult murine CNS by Sutherland, ML, Delaney, TA, Noebels, JL

“…Neuronal migration, differentiation, and synapse formation are developmental processes within the CNS significantly influenced by ionotropic and metabotropic…”
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A mouse model for Glut-1 haploinsufficiency by Wang, Dong, Pascual, Juan M., Yang, Hong, Engelstad, Kristin, Mao, Xia, Cheng, Jianfeng, Yoo, Jong, Noebels, Jeffrey L., De Vivo, Darryl C.

“…Glut-1 deficiency syndrome (Glut-1 DS, OMIM #606777) is characterized by infantile seizures, developmental delay, acquired microcephaly and hypoglycorrhachia…”
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Genetic Disruption of Cortical Interneuron Development Causes Region- and GABA Cell Type-Specific Deficits, Epilepsy, and Behavioral Dysfunction by Powell, Elizabeth M, Campbell, Daniel B, Stanwood, Gregg D, Davis, Caleb, Noebels, Jeffrey L, Levitt, Pat

“…The generation of properly functioning circuits during brain development requires precise timing of cell migration and differentiation. Disruptions in the…”
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Neuronal LRP1 Functionally Associates with Postsynaptic Proteins and Is Required for Normal Motor Function in Mice by May, Petra, Rohlmann, Astrid, Bock, Hans H., Zurhove, Kai, Marth, Jamey D., Schomburg, Eike D., Noebels, Jeffrey L., Beffert, Uwe, Sweatt, J. David, Weeber, Edwin J., Herz, Joachim

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Mice Lacking Sodium Channel beta 1 Subunits Display Defects in Neuronal Excitability, Sodium Channel Expression, and Nodal Architecture by Chen, C, Westenbroek, R E, Xu, X, Edwards, CA, Sorenson, DR, Chen, Y, McEwen, D P, O'Malley, HA, Bharucha, V, Meadows, L S, Knudsen, G A, Vilaythong, A, Noebels, J L, Saunders, T L

“…Sodium channel beta 1 subunits modulate alpha subunit gating and cell surface expression and participate in cell adhesive interactions in vitro. beta 1(-/-)…”
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Mutation of the Angelman Ubiquitin Ligase in Mice Causes Increased Cytoplasmic p53 and Deficits of Contextual Learning and Long-Term Potentiation by Jiang, Yong-hui, Armstrong, Dawna, Albrecht, Urs, Atkins, Coleen M, Noebels, Jeffrey L, Eichele, Gregor, Sweatt, J.David, Beaudet, Arthur L

“…The E6-AP ubiquitin ligase (human/mouse gene UBE3A/Ube3a) promotes the degradation of p53 in association with papilloma E6 protein, and maternal deficiency…”
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X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy by Massey, Cory A, Thompson, Samantha J, Ostrom, Ryan W, Drabek, Janice, Sveinsson, Olafur A, Tomson, Torbjörn, Haas, Elisabeth A, Mena, Othon J, Goldman, Alica M, Noebels, Jeffrey L

“…Abstract Sudden Unexpected Death in Epilepsy is a leading cause of epilepsy-related mortality, and the analysis of mouse Sudden Unexpected Death in Epilepsy…”
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Mutations in High-Voltage-Activated Calcium Channel Genes Stimulate Low-Voltage-Activated Currents in Mouse Thalamic Relay Neurons by Zhang, Yi, Mori, Mayra, Burgess, Daniel L, Noebels, Jeffrey L

“…Ca2+ currents, especially those activated at low voltages (LVA), influence burst generation in thalamocortical circuitry and enhance the abnormal rhythmicity…”
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Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10 by Ashizawa, Tetsuo, Matsuura, Tohru, Yamagata, Takanori, Burgess, Daniel L, Rasmussen, Astrid, Grewal, Raji P, Watase, Kei, Khajavi, Mehrdad, McCall, Alanna E, Davis, Caleb F, Zu, Lan, Achari, Madhureeta, Pulst, Stefan M, Alonso, Elisa, Noebels, Jeffrey L, Nelson, David L, Zoghbi, Huda Y

“…Spinocerebellar ataxia type 10 (SCA10; MIM 603516; refs 1,2) is an autosomal dominant disorder characterized by cerebellar ataxia and seizures. The gene SCA10…”
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Elevated expression of type II Na+ channels in hypomyelinated axons of shiverer mouse brain by Westenbroek, RE, Noebels, JL, Catterall, WA

“…Type I and type III Na+ channels are localized mainly in neuronal cell bodies in mouse brain. Type II channels are preferentially localized in unmyelinated…”
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Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse by Burgess, D L, Jones, J M, Meisler, M H, Noebels, J L

“…Ca2+ channel beta subunits regulate voltage-dependent calcium currents through direct interaction with alpha 1 subunits. The beta- and alpha 1-binding motifs…”
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Elevated Thalamic Low-Voltage-Activated Currents Precede the Onset of Absence Epilepsy in the SNAP25-Deficient Mouse Mutant Coloboma by Zhang, Yi, Vilaythong, Alexander P, Yoshor, Daniel, Noebels, Jeffrey L

“…Recessive mutations in genes encoding voltage-gated Ca2+ channel subunits alter high-voltage-activated (HVA) calcium currents, impair neurotransmitter release,…”
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Loss of BETA2/NeuroD Leads to Malformation of the Dentate Gyrus and Epilepsy by Liu, Min, Pleasure, Samuel J., Collins, Abigail E., Noebels, Jeffrey L., Naya, Francesco J., Tsai, Ming-Jer, Lowenstein, Daniel H.

“…BETA2/NeuroD is a homologue of the Drosophila atonal gene that is widely expressed during development in the mammalian brain and pancreas. Although studies in…”
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