SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy
作者： Nikolai A. Naryshkin , Marla Weetall , Amal Dakka , Jana Narasimhan , Xin Zhao
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摘要: Spinal muscular atrophy (SMA) is a genetic disease caused by mutation or deletion of the survival of motor neuron 1 (SMN1) gene. A paralogous gene in humans, SMN2, produces low, …
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Stephen J Kolb, Amelie K Gubitz, Robert F Olszewski, Elizabeth Ottinger, Charlotte J Sumner, Kenneth H Fischbeck, Gideon Dreyfuss, A novel cell immunoassay to measure survival of motor neurons protein in blood cells BMC Neurology. ,vol. 6, pp. 6- 6 ,(2006) , 10.1186/1471-2377-6-6
Zoya S Kai, Amy E Pasquinelli, MicroRNA assassins: factors that regulate the disappearance of miRNAs. Nature Structural & Molecular Biology. ,vol. 17, pp. 5- 10 ,(2010) , 10.1038/NSMB.1762
Luca Cartegni, Michelle L. Hastings, John A. Calarco, Elisa de Stanchina, Adrian R. Krainer, Determinants of Exon 7 Splicing in the Spinal Muscular Atrophy Genes, SMN1 and SMN2 American Journal of Human Genetics. ,vol. 78, pp. 63- 77 ,(2006) , 10.1086/498853
Jennifer A. Markowitz, Priyamvada Singh, Basil T. Darras, Spinal Muscular Atrophy: A Clinical and Research Update Pediatric Neurology. ,vol. 46, pp. 1- 12 ,(2012) , 10.1016/J.PEDIATRNEUROL.2011.09.001
Suzie Lefebvre, Lydie Bürglen, Sophie Reboullet, Olivier Clermont, Philippe Burlet, Louis Viollet, Bernard Benichou, Corinne Cruaud, Philippe Millasseau, Massimo Zeviani, Denis Le Paslier, Jean Frézal, Daniel Cohen, Jean Weissenbach, Arnold Munnich, Judith Melki, Identification and characterization of a spinal muscular atrophy-determining gene Cell. ,vol. 80, pp. 155- 165 ,(1995) , 10.1016/0092-8674(95)90460-3
Claudia Fallini, Gary J. Bassell, Wilfried Rossoll, Spinal muscular atrophy: The role of SMN in axonal mRNA regulation Brain Research. ,vol. 1462, pp. 81- 92 ,(2012) , 10.1016/J.BRAINRES.2012.01.044
Nina R Makhortova, Monica Hayhurst, Antonio Cerqueira, Amy D Sinor-Anderson, Wen-Ning Zhao, Patrick W Heiser, Anthony C Arvanites, Lance S Davidow, Zachary O Waldon, Judith A Steen, Kelvin Lam, Hien D Ngo, Lee L Rubin, A screen for regulators of survival of motor neuron protein levels Nature Chemical Biology. ,vol. 7, pp. 544- 552 ,(2011) , 10.1038/NCHEMBIO.595
Aga Lewelt, Tara M. Newcomb, Kathryn J. Swoboda, New Therapeutic Approaches to Spinal Muscular Atrophy Current Neurology and Neuroscience Reports. ,vol. 12, pp. 42- 53 ,(2012) , 10.1007/S11910-011-0240-9
Makoto Hasegawa, Tatsuhiro Miura, Kouji Kuzuya, Ayu Inoue, Se Won Ki, Sueharu Horinouchi, Tetsuo Yoshida, Tatsuki Kunoh, Koichi Koseki, Koshiki Mino, Ryuzo Sasaki, Minoru Yoshida, Tamio Mizukami, Identification of SAP155 as the target of GEX1A (Herboxidiene), an antitumor natural product. ACS Chemical Biology. ,vol. 6, pp. 229- 233 ,(2011) , 10.1021/CB100248E
Eva Arkblad, Már Tulinius, Anna-Karin Kroksmark, Mirja Henricsson, Niklas Darin, A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy. Acta Paediatrica. ,vol. 98, pp. 865- 872 ,(2009) , 10.1111/J.1651-2227.2008.01201.X