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Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0755","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1006\/excr.2000.4858","article-title":"The relationship between SMN, the spinal muscular atrophy protein, and nuclear coiled bodies in differentiated tissues and cultured cells","volume":"256","author":"Young","year":"2000","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0760","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1006\/excr.2001.5186","article-title":"Nuclear gems and Cajal (coiled) bodies in fetal tissues: nucleolar distribution of the spinal muscular atrophy protein, SMN","volume":"265","author":"Young","year":"2001","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0765","doi-asserted-by":"crossref","first-page":"2746","DOI":"10.1093\/emboj\/21.11.2746","article-title":"Cajal body-specific small nuclear RNAs: a novel class of 2\u2032-O-methylation and pseudouridylation guide RNAs","volume":"21","author":"Darzacq","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0770","doi-asserted-by":"crossref","first-page":"4283","DOI":"10.1093\/emboj\/cdg394","article-title":"A common sequence motif determines the Cajal body-specific localization of box H\/ACA scaRNAs","volume":"22","author":"Richard","year":"2003","journal-title":"EMBO J."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0775","first-page":"47","article-title":"A conserved WD40 protein binds the Cajal body localization signal of scaRNP particles, Mol","volume":"34","author":"Tycowski","year":"2009","journal-title":"Cell"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0780","doi-asserted-by":"crossref","first-page":"6616","DOI":"10.1093\/nar\/gku287","article-title":"Targeting vertebrate intron-encoded box C\/D 2\u2032-O-methylation guide RNAs into the Cajal body","volume":"42","author":"Marnef","year":"2014","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0785","doi-asserted-by":"crossref","first-page":"1181","DOI":"10.1093\/hmg\/ddp009","article-title":"The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy","volume":"18","author":"Renvois\u00e9","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0790","doi-asserted-by":"crossref","first-page":"20325","DOI":"10.1073\/pnas.1100279108","article-title":"Architecture of human telomerase RNA","volume":"108","author":"Zhang","year":"2011","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0795","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1016\/j.celrep.2015.10.075","article-title":"Human telomerase RNA processing and quality control","volume":"13","author":"Tseng","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0800","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1126\/science.1165357","article-title":"A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis","volume":"323","author":"Venteicher","year":"2009","journal-title":"Science"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0805","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1038\/nrg2438","article-title":"Metabolism and regulation of canonical histone mRNAs: life without a poly(A) tail","volume":"9","author":"Marzluff","year":"2008","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0810","doi-asserted-by":"crossref","first-page":"5470","DOI":"10.1093\/emboj\/20.19.5470","article-title":"Purified U7 snRNPs lack the Sm proteins D1 and D2 but contain Lsm10, a new 14kDa Sm D1-like protein","volume":"20","author":"Pillai","year":"2001","journal-title":"EMBO J."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0815","doi-asserted-by":"crossref","first-page":"2639","DOI":"10.1093\/nar\/gkr1056","article-title":"Functional mammalian spliceosomal complex E contains SMN complex proteins in addition to U1 and U2 snRNPs","volume":"40","author":"Makarov","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0820","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1146\/annurev-biochem-060713-035546","article-title":"RNA helicase proteins as chaperones and remodelers","volume":"83","author":"Jarmoskaite","year":"2014","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0825","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.bbrc.2004.01.067","article-title":"An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy","volume":"315","author":"Singh","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0830","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1615\/CritRevEukaryotGeneExpr.v14.i4.30","article-title":"Regulation and regulatory activities of alternative splicing of the SMN genes","volume":"14","author":"Singh","year":"2004","journal-title":"Crit. Rev. Eukaryot. Gene Expr."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0835","doi-asserted-by":"crossref","first-page":"4369","DOI":"10.1093\/nar\/gkm447","article-title":"RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events","volume":"35","author":"Buratti","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0840","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/nar\/gkl1050","article-title":"Modulating role of a RNA structure in skipping of a critical exon in the spinal muscular atrophy genes","volume":"35","author":"Singh","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0845","doi-asserted-by":"crossref","first-page":"1463","DOI":"10.1261\/rna.1069408","article-title":"Conserved RNA secondary structures promote alternative splicing","volume":"14","author":"Shepard","year":"2008","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0850","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1016\/j.tibs.2009.10.004","article-title":"Role of RNA structure in regulating pre-mRNA splicing","volume":"35","author":"Warf","year":"2010","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0855","doi-asserted-by":"crossref","first-page":"8144","DOI":"10.1093\/nar\/gkt609","article-title":"An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy","volume":"41","author":"Singh","year":"2013","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0860","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1261\/rna.7580704","article-title":"In vivo selection reveals features of combinatorial control that defines a critical exon in the spinal muscular atrophy genes","volume":"10","author":"Singh","year":"2004","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0865","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.2741\/2310","article-title":"Unfolding the mystery of alternative splicing through a unique method of in vivo selection","volume":"12","author":"Singh","year":"2007","journal-title":"Front. Biosci."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0870","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1038\/nsb887","article-title":"Correction of disease-associated exon skipping by synthetic exon-specific activators","volume":"10","author":"Cartegni","year":"2003","journal-title":"Nat. Struct. Biol."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0875","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pbio.0050073","article-title":"Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon","volume":"5","author":"Hua","year":"2007","journal-title":"PLoS Biol."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0880","doi-asserted-by":"crossref","first-page":"341","DOI":"10.4161\/rna.6.3.8723","article-title":"A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy","volume":"6","author":"Singh","year":"2009","journal-title":"RNA Biol."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0885","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0008204","article-title":"Restoration of full-length SMN promoted by adenoviral vectors expressing RNA antisense oligonucleotides embedded in U7 snRNAs","volume":"4","author":"Geib","year":"2009","journal-title":"PLoS One"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0890","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1261\/rna.2154310","article-title":"An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre mRNA splicing","volume":"16","author":"Singh","year":"2010","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0895","doi-asserted-by":"crossref","first-page":"7194","DOI":"10.1093\/nar\/gkr152","article-title":"Design principles for bifunctional targeted oligonucleotide enhancers of splicing","volume":"39","author":"Owen","year":"2011","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0900","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/mt.2011.232","article-title":"Bifunctional RNAs targeting the intronic splicing silencer N1 increase SMN levels and reduce disease severity in an animal model of spinal muscular atrophy","volume":"20","author":"Osman","year":"2012","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0905","article-title":"A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy","volume":"3","author":"Kiel","year":"2014","journal-title":"Mol. Ther.\u2013Nucleic Acids"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0910","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1038\/mt.2013.276","article-title":"Dual masking of specific negative splicing regulatory elements resulted in maximal exon 7 inclusion of SMN2 gene","volume":"22","author":"Pao","year":"2014","journal-title":"Mol. Ther."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0915","doi-asserted-by":"crossref","first-page":"11168","DOI":"10.1038\/ncomms11168","article-title":"Therapeutic activity of modified U1 core spliceosomal particles","volume":"4","author":"Rogalska","year":"2016","journal-title":"Nat. Commun."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0920","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/j.tibs.2010.03.010","article-title":"The carboxy terminal domain of RNA polymerase II and alternative splicing","volume":"35","author":"Mu\u00f1oz","year":"2010","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0925","doi-asserted-by":"crossref","first-page":"2623","DOI":"10.1016\/j.jmb.2016.04.017","article-title":"Coupling of RNA polymerase II transcription elongation with pre-mRNA splicing","volume":"428","author":"Saldi","year":"2016","journal-title":"J. Mol. Biol."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0930","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/j.celrep.2012.08.025","article-title":"FUS-SMN protein interactions link the motor neuron diseases ALS and SMA","volume":"25","author":"Yamazaki","year":"2012","journal-title":"Cell Rep."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0935","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1083\/jcb.152.1.75","article-title":"A functional interaction between the survival motor neuron complex and RNA polymerase II","volume":"152","author":"Pellizzoni","year":"2001","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0940","doi-asserted-by":"crossref","first-page":"1219","DOI":"10.1093\/hmg\/8.7.1219","article-title":"Identification of survival motor neuron as a transcriptional activator-binding protein","volume":"8","author":"Strasswimmer","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0945","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1016\/j.bbagrm.2009.05.007","article-title":"Sin3: master scaffold and transcriptional corepressor","volume":"1789","author":"Grzenda","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0950","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/nature12349","article-title":"Promoter directionality is controlled by U1 snRNP and polyadenylation signals","volume":"499","author":"Almada","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0955","doi-asserted-by":"crossref","first-page":"3384","DOI":"10.1093\/hmg\/ddp278","article-title":"Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation","volume":"18","author":"Suraweera","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0960","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1261\/rna.039164.113","article-title":"Emerging complexity of the HuD\/ELAVl4 gene; implications for neuronal development, function, and dysfunction","volume":"19","author":"Bronicki","year":"2013","journal-title":"RNA"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0965","doi-asserted-by":"crossref","first-page":"7432","DOI":"10.1093\/nar\/gkv699","article-title":"Different motif requirements for the localization zipcode element of \u03b2-actin mRNA binding by HuD and ZBP1","volume":"43","author":"Kim","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0970","doi-asserted-by":"crossref","first-page":"4035","DOI":"10.1093\/hmg\/ddp352","article-title":"p38 mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR","volume":"18","author":"Farooq","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0975","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1146\/annurev.biochem.70.1.755","article-title":"The signal recognition particle","volume":"70","author":"Keenan","year":"2001","journal-title":"Annu. Rev. Biochem."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0980","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1111\/j.1600-0854.2011.01171.x","article-title":"Molecular mechanism of co-translational protein targeting by the signal recognition particle","volume":"12","author":"Saraogi","year":"2011","journal-title":"Traffic"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb0985","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.molcel.2006.11.019","article-title":"The arginine methyltransferase CARM1 regulates the coupling of transcription and mRNA processing","volume":"25","author":"Cheng","year":"2007","journal-title":"Mol. 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Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1005","doi-asserted-by":"crossref","first-page":"6318","DOI":"10.1093\/hmg\/ddu350","article-title":"SMN regulates axonal local translation via miR-183\/mTOR pathway","volume":"23","author":"Kye","year":"2014","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1010","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/j.kjms.2013.12.007","article-title":"Survival of motor neuron protein downregulates miR-9 expression in patients with spinal muscular atrophy","volume":"30","author":"Wang","year":"2014","journal-title":"Kaohsiung J. Med. Sci."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1015","doi-asserted-by":"crossref","first-page":"18312","DOI":"10.3390\/ijms160818312","article-title":"A perturbed microRNA expression pattern characterizes embryonic neural stem cells derived from a severe mouse model of spinal muscular atrophy (SMA)","volume":"16","author":"Luchetti","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1020","doi-asserted-by":"crossref","DOI":"10.1038\/mtna.2016.47","article-title":"Altered levels of microRNA-9, -206, and -132 in spinal muscular atrophy and their response to antisense oligonucleotide therapy","volume":"5","author":"Catapano","year":"2016","journal-title":"Mol. Ther.\u2013Nucleic Acids"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1025","doi-asserted-by":"crossref","first-page":"2168","DOI":"10.1093\/hmg\/ddw084","article-title":"Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy","volume":"25","author":"Wertz","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1030","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1146\/annurev.nutr.23.011702.073318","article-title":"Mechanism and regulation of selenoprotein synthesis","volume":"23","author":"Driscoll","year":"2003","journal-title":"Annu. Rev. Nutr."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1035","doi-asserted-by":"crossref","first-page":"739","DOI":"10.1152\/physrev.00039.2013","article-title":"Selenoproteins: molecular pathways and physiological roles","volume":"94","author":"Labunskyy","year":"2014","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1040","doi-asserted-by":"crossref","first-page":"7192","DOI":"10.1093\/nar\/gkn829","article-title":"Functional characterization of alternatively spliced human SECISBP2 transcript variants","volume":"36","author":"Papp","year":"2008","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1045","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1089\/ars.2009.2913","article-title":"SECIS-binding protein 2 promotes cell survival by protecting against oxidative stress","volume":"12","author":"Papp","year":"2010","journal-title":"Antioxid. Redox Signal."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1050","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1016\/j.tcb.2016.05.004","article-title":"Principles and properties of stress granules","volume":"26","author":"Protter","year":"2016","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1055","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/j.bbagrm.2014.11.009","article-title":"Stress granules, P-bodies and cancer","volume":"1849","author":"Anderson","year":"2015","journal-title":"Biochim. Biophys. 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J."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1270","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1034\/j.1600-0854.2002.30501.x","article-title":"Endocytosis via caveolae","volume":"3","author":"Pelkmans","year":"2002","journal-title":"Traffic"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1275","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1038\/nature06639","article-title":"Autophagy fights disease through cellular self-digestion","volume":"451","author":"Mizushima","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1280","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1016\/j.brainres.2007.06.045","article-title":"Increased autophagy in transgenic mice with a G93A mutant SOD1 gene","volume":"1167","author":"Morimoto","year":"2007","journal-title":"Brain Res."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1285","doi-asserted-by":"crossref","first-page":"290","DOI":"10.4161\/auto.5524","article-title":"Altered macroautophagy in the spinal cord of SOD1 mutant mice","volume":"4","author":"Li","year":"2008","journal-title":"Autophagy"},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1290","doi-asserted-by":"crossref","DOI":"10.1038\/cddis.2013.209","article-title":"Survival motor neuron protein reduction deregulates autophagy in spinal cord motoneurons in vitro","volume":"4","author":"Garcera","year":"2013","journal-title":"Cell Death Dis."},{"key":"10.1016\/j.bbagrm.2016.12.008_bb1295","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1016\/j.mcn.2014.06.006","article-title":"Autophagy dysregulation in cell culture and animals models of spinal muscular atrophy","volume":"61","author":"Custer","year":"2014","journal-title":"Mol. 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