Search Results - "Kothary, R."

Spinal Muscular Atrophy: More than a Disease of Motor Neurons? by Nash, L A, Burns, J K, Chardon, J Warman, Kothary, R, Parks, R J

“…Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative disease resulting in infant mortality. SMA is caused by genetic…”
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At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression by Goulet, B B, Kothary, R, Parks, R J

“…Spinal muscular atrophy (SMA) is caused by mutations that reduce the level of the survival motor neuron protein (SMN) resulting in death of alpha-motor…”
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Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI by Ferrier, Andrew, Sato, Tadasu, De Repentigny, Yves, Gibeault, Sabrina, Bhanot, Kunal, O'Meara, Ryan W., Lynch-Godrei, Anisha, Kornfeld, Samantha F., Young, Kevin G., Kothary, Rashmi

“…A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous…”
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The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx1/Dlx2 bigene cluster by Ghanem, Noël, Andrusiak, Matthew G, Svoboda, Devon, Al Lafi, Sawsan M, Julian, Lisa M, McClellan, Kelly A, De Repentigny, Yves, Kothary, Rashmi, Ekker, Marc, Blais, Alexandre, Park, David S, Slack, Ruth S

“…During brain morphogenesis, the mechanisms through which the cell cycle machinery integrates with differentiation signals remain elusive. Here we show that the…”
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The role of the TWEAK/Fn14 pathway in muscle pathology in SMA by Meijboom, K.E, Hazell, G, McFall, E, Deguise, M.-O, Anthony, D, Burkly, L.C, Kothary, R, Wood, M.J.A, Bowerman, M

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The glucocorticoid-KLF15-BCAA pathway as a novel therapeutic target for spinal muscular atrophy by Walter, L.M, Betts, C.A, Meijboom, K.E, van Westering, T.L.E, Hazell, G, McFall, E, Deguise, M.-O, Kothary, R, Wood, M.J.A, Bowerman, M

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The utrophin A 5′-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2 by Miura, P., Coriati, A., Bélanger, G., De Repentigny, Y., Lee, J., Kothary, R., Holcik, M., Jasmin, B.J.

“…The molecular mechanisms regulating expression of utrophin A are of therapeutic interest since upregulating its expression at the sarcolemma can compensate for…”
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The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice by Ichikawa, H, Terayama, R, Yamaai, T, De Repentigny, Y, Kothary, R, Sugimoto, T

“…Abstract The trigeminal ganglion (TG) and mesencephalic trigeminal tract nucleus (Mes5) were investigated in wild type and dystonia musculorum ( dt ) mice to…”
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[P1.46]: The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx transcription factors by Ghanem, N., Andrusiak, M., Julien, L., McClellan, K., deRepentigny, Y., Kothary, R.

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A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus by Young, Kevin G., Pinheiro, Bruno, Kothary, Rashmi

“…Bpag1/dystonin proteins are giant cytoskeletal interacting proteins postulated to cross-link cytoskeletal filaments and thereby maintain cellular integrity…”
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The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin by Ichikawa, H., De Repentigny, Y., Kothary, R., Sugimoto, T.

“…The vagal and glossopharyngeal sensory ganglia and their peripheral tissues were examined in wild type and dystonia musculorum mice to assess the effect of…”
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Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue by Ichikawa, H, Terayama, R, Yamaai, T, De Repentigny, Y, Kothary, R, Sugimoto, T

“…Abstract The anterior part of the tongue was examined in wild type and dystonia musculorum mice to assess the effect of dystonin loss on fungiform papillae. In…”
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Inducible expression of an hsp68-lacZ hybrid gene in transgenic mice by Kothary, R, Clapoff, S, Darling, S, Perry, M D, Moran, L A, Rossant, J

“…Transgenic mice have been generated that express the E. coli beta-galactosidase gene under the control of the promoter from the mouse heat-shock gene, hsp68…”
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The beta‐globin locus control region enhances transcription of but does not confer position‐independent expression onto the lacZ gene in transgenic mice by Guy, L. G., Kothary, R., DeRepentigny, Y., Delvoye, N., Ellis, J., Wall, L.

“…The beta‐globin locus control region (LCR) confers high levels of position‐independent, copy number‐dependent expression onto globin transgenes. Here > 40…”
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A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube by Kothary, R, Clapoff, S, Brown, A, Campbell, R, Peterson, A, Rossant, J

“…The site of integration of transgenes in the host genome can affect levels of expression and occasionally confer ectopic patterns of expression on otherwise…”
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Cloning and Characterization of the Neural Isoforms of Human Dystonin by BROWN, ARTHUR, DALPÉ, GRATIEN, MATHIEU, MARTINE, KOTHARY, RASHMI

“…Dystonia musculorum (dt) is a hereditary neurodegenerative disease in mice that leads to a sensory ataxia. We have identified and cloned a gene encoded at…”
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Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination by Bernier, G, De Repentigny, Y, Mathieu, M, David, S, Kothary, R

“…A central role for the Schwann cell cytoskeleton in the process of peripheral nerve myelination has long been suggested. However, there is no genetic or…”
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Hyperplasia and tumours in lung, breast and other tissues in mice carrying a RAR beta 4‐like transgene by Bérard, J., Gaboury, L., Landers, M., De Repentigny, Y., Houle, B., Kothary, R., Bradley, W.E.

“…Transgenic mice were generated which express a truncated nuclear retinoic acid receptor beta (RAR beta), closely resembling the natural isoform RAR beta 4,…”
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Polytene chromosomes in mouse trophoblast giant cells by Varmuza, S, Prideaux, V, Kothary, R, Rossant, J

“…Mouse trophoblast giant cells undergo successive rounds of DNA replication resulting in amplification of the genome. It has been difficult to determine whether…”
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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.90The shifting landscape of SMA: development of a new mild mouse model to better understand disease in aging by Deguise, M., Beauvais, A., Tiernay, A., Paul, B., McFall, E., De Repentigny, Y., Kothary, R.

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