Items where Subject is "spinal muscular atrophy"

B

Bennett, C. F., Krainer, A. R., Cleveland, D. W. (July 2019) Antisense Oligonucleotide Therapies for Neurodegenerative Diseases. Annu Rev Neurosci, 42. pp. 385-406. ISSN 0147-006x

C

Cartegni, L., Hastings, M. L., Calarco, J. A., de Stanchina, E., Krainer, A. R. (January 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. (April 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. (April 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. (January 2017) RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns. Nucleic Acids Res, 45 (1). pp. 395-416. ISSN 1362-4962 (Electronic)0305-1048 (Linking)

F

Frederiksen, Sabrina B, Holm, Lise L, Larsen, Martin R, Doktor, Thomas K, Andersen, Henriette S, Hastings, Michelle L, Hua, Yimin, Krainer, Adrian R, Andresen, Brage S (March 2021) Identification of SRSF10 as a regulator of SMN2 ISS-N1. Human Mutation, 42 (3). pp. 246-260. ISSN 1059-7794

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. (November 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. (January 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. (October 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. (April 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. (April 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. (March 2017) SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proc Natl Acad Sci U S A, 114 (12). E2347-2356. ISSN 0027-8424

K

Krainer, A. R., Hua, Y. M., Sahashi, K., Rigo, F., Hung, G. N., Horev, G., Bennett, C. F. (October 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

L

Li, Jin-Jing, Lin, Xiang, Tang, Cheng, Lu, Ying-Qian, Hu, Xinde, Zuo, Erwei, Li, He, Ying, Wenqin, Sun, Yidi, Lai, Lu-Lu, Chen, Hai-Zhu, Guo, Xin-Xin, Zhang, Qi-Jie, Wu, Shuang, Zhou, Changyang, Shen, Xiaowen, Wang, Qifang, Lin, Min-Ting, Ma, Li-Xiang, Wang, Ning, Krainer, Adrian R, Shi, Linyu, Yang, Hui, Chen, Wan-Jin (January 2020) Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice. National Science Review, 7 (1). pp. 92-101. ISSN 2095-5138

M

Marasco, Luciano, Dujardin, Gwendal, Sousa-Luís, Rui, Liu, Ying Hsiu, Stigliano, José, Nomakuchi, Tomoki, Proudfoot, Nick, Krainer, Adrian, Kornblihtt, Alberto (2021) Towards a combined therapy for spinal muscular atrophy based on opposing effects of an antisense oligonucleotide on chromatin and splicing. bioRxiv. (Submitted)

Marasco, Luciano E, Dujardin, Gwendal, Sousa-Luís, Rui, Liu, Ying Hsiu, Stigliano, Jose N, Nomakuchi, Tomoki, Proudfoot, Nick J, Krainer, Adrian R, Kornblihtt, Alberto R (June 2022) Counteracting chromatin effects of a splicing-correcting antisense oligonucleotide improves its therapeutic efficacy in spinal muscular atrophy. Cell, 185 (12). 2057-2070.e15. ISSN 0092-8674

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. (March 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. (September 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. (October 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. (September 2013) Pathological impact of SMN2 mis-splicing in adult SMA mice. EMBO Molecular Medicine, 5 (10). pp. 1586-1601. ISSN 17574676 (ISSN)

Sheng, L., Wan, B., Feng, P., Sun, J., Rigo, F., Bennett, C. F., Akerman, M., Krainer, A. R., Hua, Y. (February 2018) Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model. Hum Mol Genet, 27 (3). pp. 486-498. ISSN 0964-6906

Sheng, L., Rigo, F., Bennett, C. F., Krainer, A. R., Hua, Y. (April 2020) Comparison of the Efficacy of MOE and PMO Modifications of Systemic Antisense Oligonucleotides in a Severe SMA Mouse Model. Nucleic Acids Research, 6 (48). pp. 2853-2865. ISSN 0305-1048 (Public Dataset)

Sivaramakrishnan, M., McCarthy, K. D., Campagne, S., Huber, S., Meier, S., Augustin, A., Heckel, T., Meistermann, H., Hug, M. N., Birrer, P., Moursy, A., Khawaja, S., Schmucki, R., Berntenis, N., Giroud, N., Golling, S., Tzouros, M., Banfai, B., Duran-Pacheco, G., Lamerz, J., Hsiu Liu, Y., Luebbers, T., Ratni, H., Ebeling, M., Clery, A., Paushkin, S., Krainer, A. R., Allain, F. H., Metzger, F. (November 2017) Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers. Nat Commun, 8 (1). p. 1476. ISSN 2041-1723

Sivaramakrishnan, M, McCarthy, KD, Huber, S, Campagne, S, Meier, S, Augustin, A, Heckel, T, Meistermann, H, Hug, M, Birrer, P, Moursy, A, Khawaja, S, Schmucki, R, Berntenis, N, Giroud, N, Golling, S, Tzouros, M, Banfai, B, Duran-Pacheco, G, Lamerz, J, Liu, YH, Luebbers, T, Ratni, H, Clery, A, Ebeling, M, Paushkin, S, Krainer, AR, Allain, F, Metzger, F (March 2017) Binding to a novel RNA-protein complex creates specificity for small molecule splicing modifiers to treat SMA. In: 10th Neuromuscular Translational Research Conference.

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. (January 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

W

Wu, X., Wang, S. H., Sun, J., Krainer, A. R., Hua, Y., Prior, T. W. (April 2017) A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy. Hum Mol Genet. ISSN 0964-6906