SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice.
暂无分享,去创建一个
Thomas M. Smith | John A. Tallarico | D. Curtis | B. Tseng | M. Hild | M. Fishman | V. Myer | S. Schuierer | W. Dietrich | D. Chin | L. Hamann | M. Beibel | G. Michaud | G. Roma | Xiaoying Shi | J. A. Porter | J. Palacino | Susanne E. Swalley | Cheng Song | Atwood K Cheung | Lei Shu | Xiaolu Zhang | Mailin Van Hoosear | Y. Shin | C. Keller | N. Renaud | M. Salcius | Rebecca Servais | Monish Jain | Lin Deng | Caroline Bullock | Michael McLellan | Leo Murphy | M. Blommers | Cecile Blaustein | Frada Berenshteyn | Arnaud Lacoste | J. Thomas | N. Dales | Rajeev Sivasankaran
[1] B. Frey,et al. The human splicing code reveals new insights into the genetic determinants of disease , 2015, Science.
[2] C. Oubridge,et al. Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5′ splice site recognition , 2015, eLife.
[3] Anirvan Ghosh,et al. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy , 2014, Science.
[4] Y. Hua,et al. Pharmacology of a Central Nervous System Delivered 2′-O-Methoxyethyl–Modified Survival of Motor Neuron Splicing Oligonucleotide in Mice and Nonhuman Primates , 2014, The Journal of Pharmacology and Experimental Therapeutics.
[5] John A. Tallarico,et al. SEC-TID , 2014, Journal of biomolecular screening.
[6] T. Akay,et al. Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation. , 2014, The Journal of clinical investigation.
[7] A. Gregory Matera,et al. A day in the life of the spliceosome , 2014, Nature Reviews Molecular Cell Biology.
[8] M. Lewandowska. The missing puzzle piece: splicing mutations. , 2013, International journal of clinical and experimental pathology.
[9] E. Lara-Pezzi,et al. The Alternative Heart: Impact of Alternative Splicing in Heart Disease , 2013, Journal of Cardiovascular Translational Research.
[10] A. Krainer,et al. Pick one, but be quick: 5' splice sites and the problems of too many choices. , 2013, Genes & development.
[11] Wendy M. Knowlton,et al. Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models. , 2012, Human molecular genetics.
[12] Ruben Abagyan,et al. ALiBERO: Evolving a Team of Complementary Pocket Conformations Rather than a Single Leader , 2012, J. Chem. Inf. Model..
[13] Steven L Salzberg,et al. Fast gapped-read alignment with Bowtie 2 , 2012, Nature Methods.
[14] Xuexiu Zheng,et al. Targeting RNA-splicing for SMA treatment , 2012, Molecules and cells.
[15] Jie Zhang,et al. SpliceDisease database: linking RNA splicing and disease , 2011, Nucleic Acids Res..
[16] M. Rich,et al. Temporal requirement for high SMN expression in SMA mice. , 2011, Human molecular genetics.
[17] J. Kissel,et al. Spinal muscular atrophy: a timely review. , 2011, Archives of neurology.
[18] N. Nagan,et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens , 2011, European Journal of Human Genetics.
[19] Marcel H. Schulz,et al. Prediction of alternative isoforms from exon expression levels in RNA-Seq experiments , 2010, Nucleic acids research.
[20] A. Brivanlou,et al. An efficient and reversible transposable system for gene delivery and lineage-specific differentiation in human embryonic stem cells. , 2009, Cell stem cell.
[21] Mikael Bodén,et al. MEME Suite: tools for motif discovery and searching , 2009, Nucleic Acids Res..
[22] Yael Mandel-Gutfreund,et al. A computational approach for genome-wide mapping of splicing factor binding sites , 2009, Genome Biology.
[23] M. Tomishima,et al. Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling , 2009, Nature Biotechnology.
[24] K. Fischbeck,et al. Regulation of SMN Protein Stability , 2008, Molecular and Cellular Biology.
[25] Eric T. Wang,et al. Alternative Isoform Regulation in Human Tissue Transcriptomes , 2008, Nature.
[26] M. Winberg,et al. Identification of a battery of tests for drug candidate evaluation in the SMNΔ7 neonate model of spinal muscular atrophy , 2008, Experimental Neurology.
[27] Mitchell R Lunn,et al. Spinal muscular atrophy , 2008, The Lancet.
[28] C. Burge,et al. Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. , 2008, RNA.
[29] Y. Hua,et al. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. , 2008, American journal of human genetics.
[30] Elisa Goina,et al. Binding of DAZAP1 and hnRNPA1/A2 to an Exonic Splicing Silencer in a Natural BRCA1 Exon 18 Mutant , 2008, Molecular and Cellular Biology.
[31] F. Major,et al. The MC-Fold and MC-Sym pipeline infers RNA structure from sequence data , 2008, Nature.
[32] T. Ichisaka,et al. Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors , 2007, Cell.
[33] C. Sumner,et al. Molecular Mechanisms of Spinal Muscular Atrophy , 2007, Journal of child neurology.
[34] T. Owa,et al. Splicing factor SF3b as a target of the antitumor natural product pladienolide , 2007, Nature Chemical Biology.
[35] Brenda F Baker,et al. Enhancement of SMN2 Exon 7 Inclusion by Antisense Oligonucleotides Targeting the Exon , 2007, PLoS biology.
[36] E. Androphy,et al. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes , 2006, Nucleic acids research.
[37] U. Monani. Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease , 2005, Neuron.
[38] Tatiana Tatusova,et al. NCBI Reference Sequence (RefSeq): a curated non-redundant sequence database of genomes, transcripts and proteins , 2004, Nucleic Acids Res..
[39] G. Crooks,et al. WebLogo: a sequence logo generator. , 2004, Genome research.
[40] Christopher B. Burge,et al. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals , 2003, RECOMB '03.
[41] C. Lorson,et al. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA , 2001, Gene Therapy.
[42] H Roos,et al. Biosensor analysis of the interaction between immobilized human serum albumin and drug compounds for prediction of human serum albumin binding levels. , 2000, Journal of medicinal chemistry.
[43] G. Neri,et al. Detection of the survival motor neuron (SMN) genes by FISH: further evidence for a role for SMN2 in the modulation of disease severity in SMA patients. , 1999, Human molecular genetics.
[44] J. McPherson,et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. , 1999, Human molecular genetics.
[45] C. Lorson,et al. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. , 1999, Proceedings of the National Academy of Sciences of the United States of America.
[46] T. Gilliam,et al. Differential SMN2 expression associated with SMA severity , 1998, Nature Genetics.
[47] J. Mendell,et al. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. , 1997, American journal of human genetics.
[48] J. Weissenbach,et al. Identification and characterization of a spinal muscular atrophy-determining gene , 1995, Cell.
[49] R. Abagyan,et al. Biased probability Monte Carlo conformational searches and electrostatic calculations for peptides and proteins. , 1994, Journal of molecular biology.
[50] A. Krainer. Pre-mRNA splicing by complementation with purified human U1, U2, U4/U6 and U5 snRNPs. , 1988, Nucleic acids research.
[51] Michael R. Green,et al. Normal and mutant human β-globin pre-mRNAs are faithfully and efficiently spliced in vitro , 1984, Cell.
[52] U. Monani,et al. SMNDelta7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN. , 2005, Human molecular genetics.
[53] B. Kastner,et al. Purification of U small nuclear ribonucleoprotein particles. , 1999, Methods in molecular biology.