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303 results on '"Kothary R"'

1. List of Contributors

Author

Androphy, E.J., primary, Arnold, W.D., additional, Beattie, C.E., additional, Bordet, T., additional, Boyd, P.J., additional, Burghes, A.H.M., additional, Butchbach, M.E.R., additional, Calder, A.N., additional, Chen, K.S., additional, Cherry, J.J., additional, Corti, S.P., additional, Crawford, T.O., additional, Darras, B.T., additional, De Vivo, D.C., additional, Deguise, M.O., additional, DiDonato, C.J., additional, Dreyfuss, G., additional, Dubowitz, V., additional, Ebert, A.D., additional, Faravelli, I., additional, Finkel, R.S., additional, Fischbeck, K.H., additional, Fletcher, E.V., additional, Foust, K.D., additional, Garcia, E.L., additional, Gillingwater, T.H., additional, Hammers, D., additional, Hao, L.T., additional, Hart, A.C., additional, Hodgetts, K.J., additional, Howell, M.D., additional, Hua, Y., additional, Iannaccone, S.T., additional, Jarecki, J., additional, Kaspar, B.K., additional, Kolb, S.J., additional, Kong, L., additional, Kothary, R., additional, Krainer, A.R., additional, Le Verche, V., additional, Lorson, C.L., additional, Lutz, C.M., additional, MacKenzie, A., additional, Matera, A.G., additional, Mazzone, E.S., additional, McGovern, V.L., additional, Melki, J., additional, Mendoza-Ferreira, N., additional, Mentis, G.Z., additional, Mercuri, E., additional, Messina, S., additional, Monani, U.R., additional, Montes, J., additional, Nelson, L.L., additional, Ng, S.Y., additional, O’Hern, P., additional, Osborne, M.A., additional, Oskoui, M., additional, Patitucci, T.N., additional, Paushkin, S., additional, Pellizzoni, L., additional, Pérez-García, M.J., additional, Prior, T.W., additional, Pruss, R.M., additional, Rubin, L.L., additional, Rutkove, S.B., additional, Schroth, M.K., additional, Simard, L.R., additional, Singh, N.N., additional, Singh, R.N., additional, So, B.R., additional, Sumner, C.J., additional, Sunshine, S.S., additional, Sweeney, H.L., additional, Tisdale, S., additional, Tizzano, E.F., additional, Torres-Benito, L., additional, Wirth, B., additional, and Zhang, Z., additional

Published
2017
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4. REGISTRIES AND CARE OF NMD

Author

Beattie, E., primary, Dowling, J., additional, Chardon, J. Warman, additional, Kothary, R., additional, Lintern, S., additional, Amin, R., additional, Buffone, T., additional, Brais, B., additional, Campbell, C., additional, Gagnon, C., additional, Gonorazky, H., additional, Karamchandani, J., additional, Korngut, L., additional, McMillan, H., additional, Oskoui, M., additional, Osman, H., additional, Selby, K., additional, Wojtal, D., additional, Worsfold, N., additional, and Lochmüller, H., additional

Published
2021
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9. REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD

Author

Amburgey, K., primary, Dowling, J., additional, Chardon, J. Warman, additional, Kothary, R., additional, Stead-Coyle, B., additional, Brais, B., additional, Campbell, C., additional, Gagnon, C., additional, McMillan, H., additional, Selby, K., additional, Korngut, L., additional, Oskoui, M., additional, Amin, R., additional, Esler, P., additional, Worsfold, N., additional, Buffone, T., additional, Wojtal, D., additional, Osman, H., additional, and Lochmüller, H., additional

Published
2020
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15. P.068 Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

Author

Deguise, M, primary, Beauvais, A, additional, Baranello, G, additional, Pileggi, C, additional, Mastella, C, additional, Tierney, A, additional, Chehade, L, additional, Leone, A, additional, De Amicis, R, additional, Battezzati, A, additional, De Repentigny, Y, additional, Warman Chardon, J, additional, McMillan, HJ, additional, Llavero-Hurtado, M, additional, Huang, Y, additional, Courtney, NL, additional, Mole, AJ, additional, Lamont, D, additional, Atrih, A, additional, Kubinski, S, additional, Claus, P, additional, Murray, LM, additional, Wishart, TM, additional, Bowerman, M, additional, Gillingwater, TH, additional, Harper, M, additional, Bertoli, S, additional, Parson, SH, additional, and Kothary, R, additional

Published
2019
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21. Analysis of SR proteins as therapeutic agents for SMA

Author

DiDonato, C.J., Young, P., Lorson, C., and Kothary, R.

Subjects
Human genetics -- Research, Genetic disorders -- Research, Exon (Molecular genetics) -- Genetic aspects, Protein metabolism -- Physiological aspects, Biological sciences
Published
2001

47. At the “Junction” of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease Progression

Author

B. Goulet, B., Kothary, R., and J. Parks, R.

Abstract

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 neurons, yet it is unclear why these cells are preferentially affected by a reduction in this ubiquitously-expressed protein. In mouse models of SMA, one of the earliest events detected is defects at the neuromuscular junction (NMJ). Although NMJs are established at a normal frequency, there are structural as well as functional perturbations and a lack of maturation of the primitive synapse. These early defects are followed by loss of the NMJ, denervation of the muscle and onset of muscle atrophy. In this review, we discuss our current understanding of the contribution of NMJ dysfunction in SMA disease pathogenesis, and also provide an overview of therapies currently under preclinical and clinical development for treatment of SMA.

Published
2013

48. 70-Kilodalton heat shock polypeptides from rainbow trout: characterization of cDNA sequences

Author

Kothary, R K, Jones, D, and Candido, E P

Abstract

RTG-2 cells, a line of fibroblasts from rainbow trout (Salmo gairdnerii), are induced to synthesize a distinct set of heat-shock polypeptides after exposure to elevated temperature or to low concentrations of sodium arsenite. We isolated and characterized two cDNA sequences, THS70.7 and THS70.14, encoding partial information for two distinct species of 70-kilodalton heat shock polypeptide (hsp70) from these cells. These sequences are identical at 73.3% of the nucleotide positions in their regions of overlap, and their degree of sequence conservation at the polypeptide level is 88.1%. The two derived trout hsp70 polypeptide sequences show extensive homology with derived amino acid sequences for hsp70 polypeptides from Drosophila melanogaster and Saccharomyces cerevisiae. Northern blot analysis of RNA from arsenite-induced RTG-2 cells, with the trout hsp70 cDNAs as probes, revealed the presence of three hsp70 mRNA species. Southern blot analysis of trout testis DNA cleaved with various restriction endonucleases revealed a small number of bands hybridizing to the hsp70 cDNAs, suggesting the existence of a small family of hsp70 genes in this species. Finally, trout hsp70 cDNA sequences cross-hybridized with restriction fragments in genomic DNA from HeLa cells, bovine liver, Caenorhabditis elegans, and D. melanogaster.

Published
1984
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49. Insertion of a bacterial gene into the mouse germ line using an infectious retrovirus vector.

Author

Huszar, D, Balling, R, Kothary, R, Magli, M C, Hozumi, N, Rossant, J, and Bernstein, A

Abstract

Using a Moloney leukemia virus vector containing the bacterial neo gene, we demonstrate that retrovirus vectors can be used to introduce genes into the mouse germ line. Infection of preimplantation embryos with the vector MLV-NEO.1 resulted in integration of neo sequences in approximately equal to 10% of the progeny mice. One of these animals, mouse F.2, contained approximately six MLV-NEO.1 proviruses at independent integration sites, each present at less than a single copy per cell. This mosaic mouse transmitted one of these proviruses to her offspring, producing a line of transgenic mice carrying a full-length, unrearranged MLV.NEO.1 provirus at a single chromosomal integration site. Mice homozygous at this MLV-NEO.1 locus have also been produced. No expression of the neo gene has been detected in the transgenic mice, either by screening of primary bone marrow or lung cells for resistance to G418 or by RNA transfer blot analysis of RNA from several tissues. In addition, the neo gene was found to be extensively methylated in the transgenic mice; however, treatment of primary cells with 5-azacytidine did not induce G418 resistance. The inactivity of the MLV-NEO.1 provirus in transgenic mice and potential means of eliciting neo expression under these conditions are discussed.

Published
1985
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50. Insertion of a bacterial gene into the mouse germ line using an infectious retrovirus vector.

Author

Huszar, D., Balling, Rudi, Kothary, R., Magli, M. C., Hozumi, N., Rossant, J., Bernstein, A., Huszar, D., Balling, Rudi, Kothary, R., Magli, M. C., Hozumi, N., Rossant, J., and Bernstein, A.

Abstract

Using a Moloney leukemia virus vector containing the bacterial neo gene, we demonstrate that retrovirus vectors can be used to introduce genes into the mouse germ line. Infection of preimplantation embryos with the vector MLV-NEO.1 resulted in integration of neo sequences in approximately equal to 10% of the progeny mice. One of these animals, mouse F.2, contained approximately six MLV-NEO.1 proviruses at independent integration sites, each present at less than a single copy per cell. This mosaic mouse transmitted one of these proviruses to her offspring, producing a line of transgenic mice carrying a full-length, unrearranged MLV.NEO.1 provirus at a single chromosomal integration site. Mice homozygous at this MLV-NEO.1 locus have also been produced. No expression of the neo gene has been detected in the transgenic mice, either by screening of primary bone marrow or lung cells for resistance to G418 or by RNA transfer blot analysis of RNA from several tissues. In addition, the neo gene was found to be extensively methylated in the transgenic mice; however, treatment of primary cells with 5-azacytidine did not induce G418 resistance. The inactivity of the MLV-NEO.1 provirus in transgenic mice and potential means of eliciting neo expression under these conditions are discussed.

Published
1985
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