Items where Subject is "diseases & disorders > congenital hereditary genetic diseases > spinal muscular atrophy"

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Number of items at this level: 16.

C

Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., Krainer, A. R. (2006) Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet, 78 (1). pp. 63-77. ISSN 0002-9297 (Print)

Cartegni, L., Krainer, A. R. (2002) Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nature Genetics, 30 (4). pp. 377-384. ISSN 1061-4036

D

De Araújo, M. M., Bonnal, S., Hastings, M. L., Krainer, A. R., Valcárcel, J. (2009) Differential 3′ splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP. RNA, 15 (4). pp. 515-523.

Doktor, T. K., Hua, Y., Andersen, H. S., Broner, S., Liu, Y. H., Wieckowska, A., Dembic, M., Bruun, G. H., Krainer, A. R., Andresen, B. S. (2016) RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns. Nucleic Acids Res. ISSN 1362-4962 (Electronic)0305-1048 (Linking)

H

Hastings, M. L., Berniac, J., Liu, Y. H., Abato, P., Jodelka, F. M., Barthel, L., Kumar, S., Dudley, C., Nelson, M., Larson, K., Edmonds, J., Bowser, T., Draper, M., Higgins, P., Krainer, A. R. (2009) Tetracyclines That Promote SMN2 Exon 7 Splicing as Therapeutics for Spinal Muscular Atrophy. Science Translational Medicine, 1 (5). ISSN 1946-6234

Hua, Y., Liu, Y. H., Sahashi, K., Rigo, F., Bennett, C. F., Krainer, A. R. (2015) Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models. Genes Dev, 29 (3). pp. 288-297. ISSN 0890-9369

Hua, Y., Sahashi, K., Rigo, F., Hung, G., Horev, G., Bennett, C. F., Krainer, A. R. (2011) Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model. Nature, 478 (7367). pp. 123-6. ISSN 1476-4687 (Electronic) 0028-0836 (Linking)

Hua, Y., Vickers, T. A., Okunola, H. L., Bennett, C. F., Krainer, A. R. (2008) Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice. Am J Hum Genet, 82 (4). pp. 834-48.

Hua, Y. M., Vickers, T. A., Baker, B. F., Bennett, C. F., Krainer, A. R. (2007) Enhancement of SMN2 Exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biology, 5 (4). e73. ISSN 1544-9173

J

Jangi, M., Fleet, C., Cullen, P., Gupta, S. V., Mekhoubad, S., Chiao, E., Allaire, N., Bennett, C. F., Rigo, F., Krainer, A. R., Hurt, J. A., Carulli, J. P., Staropoli, J. F. (2017) SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proc Natl Acad Sci U S A. ISSN 0027-8424

K

Krainer, A. R., Hua, Y. M., Sahashi, K., Rigo, F., Hung, G. N., Horev, G., Bennett, C. F. (2011) Systemic Versus CNS Delivery Of MOE Antisense Oligonucleotide to Correct Defective Splicing in a Severe Mouse Model of Spinal Muscular Atrophy. Nucleic Acid Therapeutics, 21 (5). A57-A57. ISSN 2159-3337

P

Passini, M. A., Bu, J., Richards, A. M., Kinnecom, C., Sardi, S. P., Stanek, L. M., Hua,  Y., Rigo, F., Matson, J., Hung, G., Kaye, E. M., Shihabuddin, L. S., Krainer, A. R., Bennett, C. F., Cheng, S. H. (2011) Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Science Translational Medicine, 3 (72). ISSN 19466234 (ISSN)

Prior, T. W., Krainer, A. R., Hua, Y., Swoboda, K. J., Snyder, P. C., Bridgeman, S. J., Burghes, A. H. M., Kissel, J. T. (2009) A Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene. The American Journal of Human Genetics, 85 (3). pp. 408-413.

R

Rigo, F., Hua, Y. M., Krainer, A. R., Bennett, C. F. (2012) Antisense-based therapy for the treatment of spinal muscular atrophy. Journal of Cell Biology, 199 (1). pp. 21-25. ISSN 0021-9525

S

Sahashi, K., Ling, K. K., Hua, Y., Wilkinson, J. E., Nomakuchi, T., Rigo, F., Hung, G., Xu, D., Jiang, Y. P., Lin, R. Z., Ko, C. P., Bennett, C. F., Krainer, A. R. (2013) Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Molecular Medicine, 5 (10). pp. 1586-1601. ISSN 17574676 (ISSN)

Staropoli, John F., Li, Huo, Chun, Seung J., Allaire, Norm, Cullen, Patrick, Thai, Alice, Fleet, Christina M., Hua, Yimin, Bennett, C. Frank, Krainer, Adrian R., Kerr, Doug, McCampbell, Alexander, Rigo, Frank, Carulli, John P. (2015) Rescue of gene-expression changes in an induced mouse model of spinal muscular atrophy by an antisense oligonucleotide that promotes inclusion of SMN2 exon 7. Genomics, 105 (4). pp. 220-228. ISSN 0888-7543

This list was generated on Mon Mar 27 13:17:51 2017 EDT.
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