{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T12:21:06Z","timestamp":1782994866859,"version":"3.54.5"},"publisher-location":"New York, NY","reference-count":147,"publisher":"Springer US","isbn-type":[{"value":"9781071625200","type":"print"},{"value":"9781071625217","type":"electronic"}],"license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022]]},"DOI":"10.1007\/978-1-0716-2521-7_1","type":"book-chapter","created":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T15:52:15Z","timestamp":1658937135000},"page":"1-19","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Alternative Splicing in Human Biology and Disease"],"prefix":"10.1007","author":[{"given":"Daniel","family":"Jutzi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc-David","family":"Ruepp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,7,28]]},"reference":[{"key":"1_CR1","doi-asserted-by":"publisher","first-page":"805","DOI":"10.1016\/0092-8674(94)90130-9","volume":"77","author":"PA Sharp","year":"1994","unstructured":"Sharp PA (1994) Split genes and RNA splicing. Cell 77:805\u2013815. https:\/\/doi.org\/10.1016\/0092-8674(94)90130-9","journal-title":"Cell"},{"key":"1_CR2","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev.biochem.72.121801.161720","volume":"72","author":"DL Black","year":"2003","unstructured":"Black DL (2003) Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 72:291\u2013336","journal-title":"Annu Rev Biochem"},{"key":"1_CR3","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev-biochem-060614-034316","volume":"84","author":"Y Lee","year":"2015","unstructured":"Lee Y, Rio DC (2015) Mechanisms and regulation of alternative pre-mRNA splicing. Annu Rev Biochem 84:291\u2013323","journal-title":"Annu Rev Biochem"},{"key":"1_CR4","doi-asserted-by":"publisher","first-page":"1587","DOI":"10.1126\/science.1230612","volume":"338","author":"NL Barbosa-Morais","year":"2012","unstructured":"Barbosa-Morais NL, Irimia M, Pan Q et al (2012) The evolutionary landscape of alternative splicing in vertebrate species. Science 338:1587\u20131593. https:\/\/doi.org\/10.1126\/science.1230612","journal-title":"Science"},{"key":"1_CR5","doi-asserted-by":"publisher","first-page":"1593","DOI":"10.1126\/science.1228186","volume":"338","author":"J Merkin","year":"2012","unstructured":"Merkin J, Russell C, Chen P, Burge CB (2012) Evolutionary dynamics of gene and isoform regulation in mammalian tissues. Science 338:1593\u20131599. https:\/\/doi.org\/10.1126\/science.1228186","journal-title":"Science"},{"key":"1_CR6","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1038\/nrm1467","volume":"5","author":"C Shin","year":"2004","unstructured":"Shin C, Manley JL (2004) Cell signalling and the control of pre-mRNA splicing. Nat Rev Mol Cell Biol 5:727\u2013738","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1_CR7","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1038\/nrg1896","volume":"7","author":"Y Xing","year":"2006","unstructured":"Xing Y, Lee C (2006) Alternative splicing and RNA selection pressure\u2014evolutionary consequences for eukaryotic genomes. Nat Rev Genet 7:499\u2013509","journal-title":"Nat Rev Genet"},{"key":"1_CR8","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1038\/nature08909","volume":"463","author":"TW Nilsen","year":"2010","unstructured":"Nilsen TW, Graveley BR (2010) Expansion of the eukaryotic proteome by alternative splicing. Nature 463:457\u2013463","journal-title":"Nature"},{"key":"1_CR9","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.cell.2006.06.023","volume":"126","author":"BJ Blencowe","year":"2006","unstructured":"Blencowe BJ (2006) Alternative splicing: new insights from global analyses. Cell 126:37\u201347","journal-title":"Cell"},{"key":"1_CR10","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1101\/cshperspect.a003707","volume":"3","author":"CL Will","year":"2011","unstructured":"Will CL, L\u00fchrmann R (2011) Spliceosome structure and function. Cold Spring Harb Perspect Biol 3:1\u20132. https:\/\/doi.org\/10.1101\/cshperspect.a003707","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1_CR11","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1016\/S1097-2765(03)00270-3","volume":"12","author":"MS Jurica","year":"2003","unstructured":"Jurica MS, Moore MJ (2003) Pre-mRNA splicing: awash in a sea of proteins. Mol Cell 12:5\u201314","journal-title":"Mol Cell"},{"key":"1_CR12","doi-asserted-by":"publisher","first-page":"539","DOI":"10.1038\/35054102","volume":"409","author":"H Stark","year":"2001","unstructured":"Stark H, Dube P, Lu\u00fchrmann R, Kastner B (2001) Arrangement of RNA and proteins in the spliceosomal U1 small nuclear ribonucleoprotein particle. Nature 409:539\u2013542. https:\/\/doi.org\/10.1038\/35054102","journal-title":"Nature"},{"key":"1_CR13","doi-asserted-by":"publisher","first-page":"187","DOI":"10.1093\/emboj\/20.1.187","volume":"20","author":"H Urlaub","year":"2001","unstructured":"Urlaub H, Raker VA, Kostka S, L\u00fchrmann R (2001) Sm protein-Sm site RNA interactions within the inner ring of the spliceosomal snRNP core structure. EMBO J 20:187\u2013196. https:\/\/doi.org\/10.1093\/emboj\/20.1.187","journal-title":"EMBO J"},{"key":"1_CR14","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1016\/j.cell.2009.02.009","volume":"136","author":"MC Wahl","year":"2009","unstructured":"Wahl MC, Will CL, L\u00fchrmann R (2009) The spliceosome: design principles of a dynamic RNP machine. Cell 136:701\u2013718","journal-title":"Cell"},{"key":"1_CR15","doi-asserted-by":"publisher","first-page":"a032417","DOI":"10.1101\/cshperspect.a032417","volume":"11","author":"B Kastner","year":"2019","unstructured":"Kastner B, Will CL, Stark H, L\u00fchrmann R (2019) Structural insights into nuclear pre-mRNA splicing in higher eukaryotes. Cold Spring Harb Perspect Biol 11:a032417. https:\/\/doi.org\/10.1101\/cshperspect.a032417","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1_CR16","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1146\/annurev-biochem-091719-064225","volume":"89","author":"ME Wilkinson","year":"2020","unstructured":"Wilkinson ME, Charenton C, Nagai K (2020) RNA splicing by the spliceosome. Annu Rev Biochem 89:359\u2013388","journal-title":"Annu Rev Biochem"},{"key":"1_CR17","doi-asserted-by":"publisher","first-page":"a032409","DOI":"10.1101\/cshperspect.a032409","volume":"11","author":"C Yan","year":"2019","unstructured":"Yan C, Wan R, Shi Y (2019) Molecular mechanisms of pre-mRNA splicing through structural biology of the spliceosome. Cold Spring Harb Perspect Biol 11:a032409. https:\/\/doi.org\/10.1101\/cshperspect.a032409","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"1_CR18","doi-asserted-by":"publisher","first-page":"83","DOI":"10.4161\/rna.22547","volume":"10","author":"O Cordin","year":"2013","unstructured":"Cordin O, Beggs JD (2013) RNA helicases in splicing. RNA Biol 10:83\u201395","journal-title":"RNA Biol"},{"key":"1_CR19","doi-asserted-by":"publisher","first-page":"1289","DOI":"10.1126\/science.1198830","volume":"331","author":"AA Hoskins","year":"2011","unstructured":"Hoskins AA, Friedman LJ, Gallagher SS et al (2011) Ordered and dynamic assembly of single spliceosomes. Science 331:1289\u20131295. https:\/\/doi.org\/10.1126\/science.1198830","journal-title":"Science"},{"key":"1_CR20","doi-asserted-by":"publisher","first-page":"e04986","DOI":"10.7554\/eLife.04986","volume":"4","author":"Y Kondo","year":"2015","unstructured":"Kondo Y, Oubridge C, van Roon AMM, Nagai K (2015) Crystal structure of human U1 snRNP, a small nuclear ribonucleoprotein particle, reveals the mechanism of 5\u2032 splice site recognition. Elife 4:e04986. https:\/\/doi.org\/10.7554\/eLife.04986","journal-title":"Elife"},{"key":"1_CR21","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1101\/gad.12.6.858","volume":"12","author":"JA Berglund","year":"1998","unstructured":"Berglund JA, Abovich N, Rosbash M (1998) A cooperative interaction between U2AF65 and mBBP\/SF1 facilitates branchpoint region recognition. Genes Dev 12:858\u2013867. https:\/\/doi.org\/10.1101\/gad.12.6.858","journal-title":"Genes Dev"},{"key":"1_CR22","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1038\/s41586-018-0323-8","volume":"559","author":"C Plaschka","year":"2018","unstructured":"Plaschka C, Lin PC, Charenton C, Nagai K (2018) Prespliceosome structure provides insights into spliceosome assembly and regulation. Nature 559:419\u2013422. https:\/\/doi.org\/10.1038\/s41586-018-0323-8","journal-title":"Nature"},{"key":"1_CR23","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1126\/science.aax3289","volume":"364","author":"C Charenton","year":"2019","unstructured":"Charenton C, Wilkinson ME, Nagai K (2019) Mechanism of 5\u2032 splice site transfer for human spliceosome activation. Science 364:362\u2013367. https:\/\/doi.org\/10.1126\/science.aax3289","journal-title":"Science"},{"key":"1_CR24","doi-asserted-by":"publisher","first-page":"454","DOI":"10.1016\/j.cell.2018.01.010","volume":"172","author":"D Haselbach","year":"2018","unstructured":"Haselbach D, Komarov I, Agafonov DE et al (2018) Structure and conformational dynamics of the human Spliceosomal Bact complex. Cell 172:454\u2013464.e11. https:\/\/doi.org\/10.1016\/j.cell.2018.01.010","journal-title":"Cell"},{"key":"1_CR25","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1016\/j.cell.2017.04.033","volume":"169","author":"X Zhang","year":"2017","unstructured":"Zhang X, Yan C, Hang J et al (2017) An atomic structure of the human spliceosome. Cell 169:918\u2013929.e14. https:\/\/doi.org\/10.1016\/j.cell.2017.04.033","journal-title":"Cell"},{"key":"1_CR26","doi-asserted-by":"publisher","first-page":"274","DOI":"10.1038\/s41422-019-0143-x","volume":"29","author":"X Zhang","year":"2019","unstructured":"Zhang X, Zhan X, Yan C et al (2019) Structures of the human spliceosomes before and after release of the ligated exon. Cell Res 29:274\u2013285. https:\/\/doi.org\/10.1038\/s41422-019-0143-x","journal-title":"Cell Res"},{"key":"1_CR27","doi-asserted-by":"publisher","first-page":"960","DOI":"10.1038\/nrm1259","volume":"4","author":"AA Patel","year":"2003","unstructured":"Patel AA, Steitz JA (2003) Splicing double: insights from the second spliceosome. Nat Rev Mol Cell Biol 4:960\u2013970","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1_CR28","doi-asserted-by":"publisher","first-page":"713","DOI":"10.1515\/BC.2005.084","volume":"386","author":"CL Will","year":"2005","unstructured":"Will CL, L\u00fchrmann R (2005) Splicing of a rare class of introns by the U12-dependent spliceosome. Biol Chem 386:713\u2013724","journal-title":"Biol Chem"},{"key":"1_CR29","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/wrna.1141","volume":"4","author":"JJ Turunen","year":"2013","unstructured":"Turunen JJ, Niemel\u00e4 EH, Verma B, Frilander MJ (2013) The significant other: splicing by the minor spliceosome. Wiley Interdiscip Rev RNA 4:61\u201376","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"1_CR30","doi-asserted-by":"publisher","first-page":"40","DOI":"10.15698\/cst2018.03.126","volume":"2","author":"D Jutzi","year":"2018","unstructured":"Jutzi D, Akinyi MV, Mechtersheimer J et al (2018) The emerging role of minor intron splicing in neurological disorders. Cell Stress 2:40\u201354","journal-title":"Cell Stress"},{"key":"1_CR31","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.semcdb.2017.09.036","volume":"79","author":"B Verma","year":"2018","unstructured":"Verma B, Akinyi MV, Norppa AJ, Frilander MJ (2018) Minor spliceosome and disease. Semin Cell Dev Biol 79:103\u2013112","journal-title":"Semin Cell Dev Biol"},{"key":"1_CR32","doi-asserted-by":"publisher","first-page":"1325","DOI":"10.1080\/15476286.2014.996454","volume":"11","author":"EH Niemel\u00e4","year":"2014","unstructured":"Niemel\u00e4 EH, Frilander MJ (2014) Regulation of gene expression through inefficient splicing of U12-type introns. RNA Biol 11:1325\u20131329","journal-title":"RNA Biol"},{"key":"1_CR33","doi-asserted-by":"publisher","first-page":"e00780","DOI":"10.7554\/eLife.00780","volume":"2","author":"I Younis","year":"2013","unstructured":"Younis I, Dittmar K, Wang W et al (2013) Minor introns are embedded molecular switches regulated by highly unstable U6atac snRNA. Elife 2:e00780. https:\/\/doi.org\/10.7554\/eLife.00780","journal-title":"Elife"},{"key":"1_CR34","doi-asserted-by":"publisher","first-page":"3804","DOI":"10.1093\/emboj\/cdf297","volume":"21","author":"AA Patel","year":"2002","unstructured":"Patel AA, McCarthy M, Steitz JA (2002) The splicing of U12-type introns can be a rate-limiting step in gene expression. EMBO J 21:3804\u20133815. https:\/\/doi.org\/10.1093\/emboj\/cdf297","journal-title":"EMBO J"},{"key":"1_CR35","doi-asserted-by":"publisher","first-page":"831","DOI":"10.1016\/j.cell.2004.11.010","volume":"119","author":"Z Wang","year":"2004","unstructured":"Wang Z, Rolish ME, Yeo G et al (2004) Systematic identification and analysis of exonic splicing silencers. Cell 119:831\u2013845. https:\/\/doi.org\/10.1016\/j.cell.2004.11.010","journal-title":"Cell"},{"key":"1_CR36","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1038\/nrm1645","volume":"6","author":"AJ Matlin","year":"2005","unstructured":"Matlin AJ, Clark F, Smith CWJ (2005) Understanding alternative splicing: towards a cellular code. Nat Rev Mol Cell Biol 6:386\u2013398","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1_CR37","doi-asserted-by":"publisher","first-page":"802","DOI":"10.1261\/rna.876308","volume":"14","author":"Z Wang","year":"2008","unstructured":"Wang Z, Burge CB (2008) Splicing regulation: from a parts list of regulatory elements to an integrated splicing code. RNA 14:802\u2013813","journal-title":"RNA"},{"key":"1_CR38","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1016\/S0968-0004(00)01604-2","volume":"25","author":"CWJ Smith","year":"2000","unstructured":"Smith CWJ, Valc\u00e1rcel J (2000) Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci 25:381\u2013388","journal-title":"Trends Biochem Sci"},{"key":"1_CR39","doi-asserted-by":"publisher","first-page":"1463","DOI":"10.1261\/rna.1069408","volume":"14","author":"PJ Shepard","year":"2008","unstructured":"Shepard PJ, Hertel KJ (2008) Conserved RNA secondary structures promote alternative splicing. RNA 14:1463\u20131469. https:\/\/doi.org\/10.1261\/rna.1069408","journal-title":"RNA"},{"key":"1_CR40","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1038\/nrm2777","volume":"10","author":"M Chen","year":"2009","unstructured":"Chen M, Manley JL (2009) Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat Rev Mol Cell Biol 10:741\u2013754","journal-title":"Nat Rev Mol Cell Biol"},{"key":"1_CR41","doi-asserted-by":"publisher","first-page":"689","DOI":"10.1038\/nrg3778","volume":"15","author":"XD Fu","year":"2014","unstructured":"Fu XD, Ares M (2014) Context-dependent control of alternative splicing by RNA-binding proteins. Nat Rev Genet 15:689\u2013701","journal-title":"Nat Rev Genet"},{"key":"1_CR42","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1186\/gb-2009-10-10-242","volume":"10","author":"PJ Shepard","year":"2009","unstructured":"Shepard PJ, Hertel KJ (2009) The SR protein family. Genome Biol 10:242","journal-title":"Genome Biol"},{"key":"1_CR43","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1042\/BJ20081501","volume":"417","author":"JC Long","year":"2009","unstructured":"Long JC, Caceres JF (2009) The SR protein family of splicing factors: master regulators of gene expression. Biochem J 417:15\u201327","journal-title":"Biochem J"},{"key":"1_CR44","doi-asserted-by":"publisher","first-page":"2411","DOI":"10.1074\/jbc.270.6.2411","volume":"270","author":"SM Berget","year":"1995","unstructured":"Berget SM (1995) Exon recognition in vertebrate splicing. J Biol Chem 270:2411\u20132414","journal-title":"J Biol Chem"},{"key":"1_CR45","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1038\/s41586-019-1523-6","volume":"573","author":"X Li","year":"2019","unstructured":"Li X, Liu S, Zhang L et al (2019) A unified mechanism for intron and exon definition and back-splicing. Nature 573:375\u2013380. https:\/\/doi.org\/10.1038\/s41586-019-1523-6","journal-title":"Nature"},{"key":"1_CR46","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/S1097-2765(04)00025-5","volume":"13","author":"H Shen","year":"2004","unstructured":"Shen H, Kan JLC, Green MR (2004) Arginine-serine-rich domains bound at splicing enhancers contact the branchpoint to promote Prespliceosome assembly. Mol Cell 13:367\u2013376. https:\/\/doi.org\/10.1016\/S1097-2765(04)00025-5","journal-title":"Mol Cell"},{"key":"1_CR47","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1038\/381535a0","volume":"381","author":"A Kanopka","year":"1996","unstructured":"Kanopka A, Muhlemann O, Akusjarvi G (1996) Inhibition by SR proteins splicing of a regulated adenovirus pre-mRNA. Nature 381:535\u2013538. https:\/\/doi.org\/10.1038\/381535a0","journal-title":"Nature"},{"key":"1_CR48","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1146\/annurev.bi.62.070193.001445","volume":"62","author":"G Dreyfuss","year":"1993","unstructured":"Dreyfuss G, Matunis MJ, Pi\u00f1ol-Roma S, Burd CG (1993) hnRNP proteins and the biogenesis of mRNA. Annu Rev Biochem 62:289\u2013321","journal-title":"Annu Rev Biochem"},{"key":"1_CR49","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1007\/s00439-016-1683-5","volume":"135","author":"T Geuens","year":"2016","unstructured":"Geuens T, Bouhy D, Timmerman V (2016) The hnRNP family: insights into their role in health and disease. Hum Genet 135:851\u2013867","journal-title":"Hum Genet"},{"key":"1_CR50","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/j.tig.2010.12.001","volume":"27","author":"JT Witten","year":"2011","unstructured":"Witten JT, Ule J (2011) Understanding splicing regulation through RNA splicing maps. Trends Genet 27:89\u201397","journal-title":"Trends Genet"},{"key":"1_CR51","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1002\/wrna.31","volume":"1","author":"RB Darnell","year":"2010","unstructured":"Darnell RB (2010) HITS-CLIP: panoramic views of protein-RNA regulation in living cells. Wiley Interdiscip Rev RNA 1:266\u2013286. https:\/\/doi.org\/10.1002\/wrna.31","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"1_CR52","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1016\/S1097-2765(01)00409-9","volume":"8","author":"J Zhu","year":"2001","unstructured":"Zhu J, Mayeda A, Krainer AR (2001) Exon identity established through differential antagonism between exonic splicing silencer-bound hnRNP A1 and enhancer-bound SR proteins. Mol Cell 8:1351\u20131361. https:\/\/doi.org\/10.1016\/S1097-2765(01)00409-9","journal-title":"Mol Cell"},{"key":"1_CR53","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1016\/0092-8674(92)90477-T","volume":"68","author":"A Mayeda","year":"1992","unstructured":"Mayeda A, Krainer AR (1992) Regulation of alternative pre-mRNA splicing by hnRNP A1 and splicing factor SF2. Cell 68:365\u2013375. https:\/\/doi.org\/10.1016\/0092-8674(92)90477-T","journal-title":"Cell"},{"key":"1_CR54","doi-asserted-by":"publisher","first-page":"909","DOI":"10.1038\/nsmb.1838","volume":"17","author":"J K\u00f6nig","year":"2010","unstructured":"K\u00f6nig J, Zarnack K, Rot G et al (2010) ICLIP reveals the function of hnRNP particles in splicing at individual nucleotide resolution. Nat Struct Mol Biol 17:909\u2013915. https:\/\/doi.org\/10.1038\/nsmb.1838","journal-title":"Nat Struct Mol Biol"},{"key":"1_CR55","doi-asserted-by":"publisher","first-page":"2054","DOI":"10.1126\/science.1114066","volume":"309","author":"FC Oberstrass","year":"2005","unstructured":"Oberstrass FC, Auwetor SD, Erat M et al (2005) Structural biology - structure of PTB bound to RNA: specific binding and implications for splicing regulation. Science 309:2054\u20132057. https:\/\/doi.org\/10.1126\/science.1114066","journal-title":"Science"},{"key":"1_CR56","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1093\/emboj\/18.7.1939","volume":"18","author":"M Blanchette","year":"1999","unstructured":"Blanchette M, Chabot B (1999) Modulation of exon skipping by high-affinity hnRNP A1-binding sites and by intron elements that repress splice site utilization. EMBO J 18:1939\u20131952. https:\/\/doi.org\/10.1093\/emboj\/18.7.1939","journal-title":"EMBO J"},{"key":"1_CR57","doi-asserted-by":"publisher","first-page":"6882","DOI":"10.1093\/emboj\/cdf668","volume":"21","author":"P F\u00f6rch","year":"2002","unstructured":"F\u00f6rch P, Puig O, Mart\u00ednez C et al (2002) The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5\u2032 splice sites. EMBO J 21:6882\u20136892. https:\/\/doi.org\/10.1093\/emboj\/cdf668","journal-title":"EMBO J"},{"key":"1_CR58","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1016\/j.molcel.2005.06.015","volume":"19","author":"JM Izquierdo","year":"2005","unstructured":"Izquierdo JM, Maj\u00f3s N, Bonnal S et al (2005) Regulation of fas alternative splicing by antagonistic effects of TIA-1 and PTB on exon definition. Mol Cell 19:475\u2013484. https:\/\/doi.org\/10.1016\/j.molcel.2005.06.015","journal-title":"Mol Cell"},{"key":"1_CR59","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/j.molcel.2011.02.012","volume":"41","author":"S Sharma","year":"2011","unstructured":"Sharma S, Maris C, Allain FHT, Black DL (2011) U1 snRNA directly interacts with polypyrimidine tract-binding protein during splicing repression. Mol Cell 41:579\u2013588. https:\/\/doi.org\/10.1016\/j.molcel.2011.02.012","journal-title":"Mol Cell"},{"key":"1_CR60","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1261\/rna.072256.119","volume":"25","author":"W Martelly","year":"2019","unstructured":"Martelly W, Fellows B, Senior K et al (2019) Identification of a noncanonical RNA binding domain in the U2 snRNP protein SF3A1. RNA 25:1509\u20131521. https:\/\/doi.org\/10.1261\/rna.072256.119","journal-title":"RNA"},{"key":"1_CR61","doi-asserted-by":"publisher","first-page":"6341","DOI":"10.1038\/s41467-020-20191-3","volume":"11","author":"D Jutzi","year":"2020","unstructured":"Jutzi D, Campagne S, Schmidt R et al (2020) Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced amyotrophic lateral sclerosis. Nat Commun 11:6341. https:\/\/doi.org\/10.1038\/s41467-020-20191-3","journal-title":"Nat Commun"},{"key":"1_CR62","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1016\/j.molcel.2008.08.008","volume":"32","author":"S Bonnal","year":"2008","unstructured":"Bonnal S, Mart\u00ednez C, F\u00f6rch P et al (2008) RBM5\/Luca-15\/H37 regulates Fas alternative splice site pairing after exon definition. Mol Cell 32:81\u201395. https:\/\/doi.org\/10.1016\/j.molcel.2008.08.008","journal-title":"Mol Cell"},{"key":"1_CR63","doi-asserted-by":"publisher","first-page":"e1532","DOI":"10.1002\/wrna.1532","volume":"10","author":"S Nik","year":"2019","unstructured":"Nik S, Bowman TV (2019) Splicing and neurodegeneration: insights and mechanisms. Wiley Interdiscip Rev RNA 10:e1532","journal-title":"Wiley Interdiscip Rev RNA"},{"key":"1_CR64","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1146\/annurev-cancerbio-030617-050407","volume":"3","author":"L Escobar-Hoyos","year":"2019","unstructured":"Escobar-Hoyos L, Knorr K, Abdel-Wahab O (2019) Aberrant RNA splicing in cancer. Annu Rev Cancer Biol 3:167\u2013185","journal-title":"Annu Rev Cancer Biol"},{"key":"1_CR65","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1002\/ana.22278","volume":"69","author":"JP Orengo","year":"2011","unstructured":"Orengo JP, Ward AJ, Cooper TA (2011) Alternative splicing dysregulation secondary to skeletal muscle regeneration. Ann Neurol 69:681\u2013690. https:\/\/doi.org\/10.1002\/ana.22278","journal-title":"Ann Neurol"},{"key":"1_CR66","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1101\/gad.1048803","volume":"17","author":"NA Faustino","year":"2003","unstructured":"Faustino NA, Cooper TA (2003) Pre-mRNA splicing and human disease. Genes Dev 17:419\u2013437","journal-title":"Genes Dev"},{"key":"1_CR67","doi-asserted-by":"publisher","first-page":"389","DOI":"10.1038\/nrg1327","volume":"5","author":"F Pagani","year":"2004","unstructured":"Pagani F, Baralle FE (2004) Genomic variants in exons and introns: identifying the splicing spoilers. Nat Rev Genet 5:389\u2013396","journal-title":"Nat Rev Genet"},{"key":"1_CR68","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1016\/j.bbadis.2014.05.019","volume":"1852","author":"G Meola","year":"2015","unstructured":"Meola G, Cardani R (2015) Myotonic dystrophies: an update on clinical aspects, genetic, pathology, and molecular pathomechanisms. Biochim Biophys Acta Mol basis Dis 1852:594\u2013606","journal-title":"Biochim Biophys Acta Mol basis Dis"},{"key":"1_CR69","doi-asserted-by":"publisher","first-page":"799","DOI":"10.1016\/0092-8674(92)90154-5","volume":"68","author":"JD Brook","year":"1992","unstructured":"Brook JD, McCurrach ME, Harley HG et al (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3\u2032 end of a transcript encoding a protein kinase family member. Cell 68:799\u2013808. https:\/\/doi.org\/10.1016\/0092-8674(92)90154-5","journal-title":"Cell"},{"key":"1_CR70","doi-asserted-by":"publisher","first-page":"1256","DOI":"10.1126\/science.1546326","volume":"255","author":"YH Fu","year":"1992","unstructured":"Fu YH, Pizzuti A, Fenwick RG et al (1992) An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255:1256\u20131258. https:\/\/doi.org\/10.1126\/science.1546326","journal-title":"Science"},{"key":"1_CR71","doi-asserted-by":"publisher","first-page":"1253","DOI":"10.1126\/science.1546325","volume":"255","author":"M Mahadevan","year":"1992","unstructured":"Mahadevan M, Tsilfidis C, Sabourin L et al (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3\u2032 untranslated region of the gene. Science 255:1253\u20131255. https:\/\/doi.org\/10.1126\/science.1546325","journal-title":"Science"},{"key":"1_CR72","doi-asserted-by":"publisher","first-page":"7388","DOI":"10.1073\/pnas.94.14.7388","volume":"94","author":"BM Davis","year":"1997","unstructured":"Davis BM, Mccurrach ME, Taneja KL et al (1997) Expansion of a CUG trinucleotide repeat in the 3\u2032 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A 94:7388\u20137393. https:\/\/doi.org\/10.1073\/pnas.94.14.7388","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1_CR73","doi-asserted-by":"publisher","first-page":"4439","DOI":"10.1093\/emboj\/19.17.4439","volume":"19","author":"JW Miller","year":"2000","unstructured":"Miller JW, Urbinati CR, Teng-Umnuay P et al (2000) Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 19:4439\u20134448. https:\/\/doi.org\/10.1093\/emboj\/19.17.4439","journal-title":"EMBO J"},{"key":"1_CR74","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.molcel.2007.07.027","volume":"28","author":"NM Kuyumcu-Martinez","year":"2007","unstructured":"Kuyumcu-Martinez NM, Wang GS, Cooper TA (2007) Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. Mol Cell 28:68\u201378. https:\/\/doi.org\/10.1016\/j.molcel.2007.07.027","journal-title":"Mol Cell"},{"key":"1_CR75","doi-asserted-by":"publisher","first-page":"20333","DOI":"10.1073\/pnas.0809045105","volume":"105","author":"A Kalsotra","year":"2008","unstructured":"Kalsotra A, Xiao X, Ward AJ et al (2008) A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart. Proc Natl Acad Sci U S A 105:20333\u201320338. https:\/\/doi.org\/10.1073\/pnas.0809045105","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1_CR76","doi-asserted-by":"publisher","first-page":"1285","DOI":"10.1128\/mcb.21.4.1285-1296.2001","volume":"21","author":"AN Ladd","year":"2001","unstructured":"Ladd AN, Charlet-B N, Cooper TA (2001) The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol 21:1285\u20131296. https:\/\/doi.org\/10.1128\/mcb.21.4.1285-1296.2001","journal-title":"Mol Cell Biol"},{"key":"1_CR77","doi-asserted-by":"publisher","first-page":"437","DOI":"10.1016\/j.neuron.2012.05.029","volume":"75","author":"K Charizanis","year":"2012","unstructured":"Charizanis K, Lee KY, Batra R et al (2012) Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron 75:437\u2013450. https:\/\/doi.org\/10.1016\/j.neuron.2012.05.029","journal-title":"Neuron"},{"key":"1_CR78","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/S1097-2765(02)00572-5","volume":"10","author":"BN Charlet","year":"2002","unstructured":"Charlet BN, Savkur RS, Singh G et al (2002) Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 10:45\u201353. https:\/\/doi.org\/10.1016\/S1097-2765(02)00572-5","journal-title":"Mol Cell"},{"key":"1_CR79","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1016\/S1097-2765(02)00563-4","volume":"10","author":"A Mankodi","year":"2002","unstructured":"Mankodi A, Takahashi MP, Jiang H et al (2002) Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 10:35\u201344. https:\/\/doi.org\/10.1016\/S1097-2765(02)00563-4","journal-title":"Mol Cell"},{"key":"1_CR80","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1038\/ng704","volume":"29","author":"RS Savkur","year":"2001","unstructured":"Savkur RS, Philips AV, Cooper TA (2001) Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 29:40\u201347. https:\/\/doi.org\/10.1038\/ng704","journal-title":"Nat Genet"},{"key":"1_CR81","doi-asserted-by":"publisher","first-page":"737","DOI":"10.1126\/science.280.5364.737","volume":"280","author":"AV Philips","year":"1998","unstructured":"Philips AV, Timchenko LT, Cooper TA (1998) Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280:737\u2013741. https:\/\/doi.org\/10.1126\/science.280.5364.737","journal-title":"Science"},{"key":"1_CR82","doi-asserted-by":"publisher","first-page":"2143","DOI":"10.1093\/hmg\/10.19.2143","volume":"10","author":"N Sergeant","year":"2001","unstructured":"Sergeant N, Sablonni\u00e8re B, Schraen-Maschke S et al (2001) Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 10:2143\u20132155. https:\/\/doi.org\/10.1093\/hmg\/10.19.2143","journal-title":"Hum Mol Genet"},{"key":"1_CR83","doi-asserted-by":"publisher","first-page":"2120","DOI":"10.1016\/S0140-6736(08)60921-6","volume":"371","author":"MR Lunn","year":"2008","unstructured":"Lunn MR, Wang CH (2008) Spinal muscular atrophy. Lancet 371:2120\u20132133","journal-title":"Lancet"},{"key":"1_CR84","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/0092-8674(95)90460-3","volume":"80","author":"S Lefebvre","year":"1995","unstructured":"Lefebvre S, B\u00fcrglen L, Reboullet S et al (1995) Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80:155\u2013165. https:\/\/doi.org\/10.1016\/0092-8674(95)90460-3","journal-title":"Cell"},{"key":"1_CR85","doi-asserted-by":"publisher","first-page":"9920","DOI":"10.1073\/pnas.94.18.9920","volume":"94","author":"B Schrank","year":"1997","unstructured":"Schrank B, G\u00f6tz R, Gunnersen JM et al (1997) Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc Natl Acad Sci U S A 94:9920\u20139925. https:\/\/doi.org\/10.1073\/pnas.94.18.9920","journal-title":"Proc Natl Acad Sci U S A"},{"key":"1_CR86","doi-asserted-by":"publisher","first-page":"377","DOI":"10.1038\/ng854","volume":"30","author":"L Cartegni","year":"2002","unstructured":"Cartegni L, Krainer AR (2002) Disruption of an SF2\/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN. Nat Genet 30:377\u2013384. https:\/\/doi.org\/10.1038\/ng854","journal-title":"Nat Genet"},{"key":"1_CR87","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1038\/ng1207","volume":"34","author":"T Kashima","year":"2003","unstructured":"Kashima T, Manley JL (2003) A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat Genet 34:460\u2013463. https:\/\/doi.org\/10.1038\/ng1207","journal-title":"Nat Genet"},{"key":"1_CR88","doi-asserted-by":"publisher","first-page":"1291","DOI":"10.1261\/rna.7580704","volume":"10","author":"NN Singh","year":"2004","unstructured":"Singh NN, Androphy EJ, Singh RN (2004) In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA 10:1291\u20131305. https:\/\/doi.org\/10.1261\/rna.7580704","journal-title":"RNA"},{"key":"1_CR89","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.1128\/mcb.01262-08","volume":"29","author":"BG Burnett","year":"2009","unstructured":"Burnett BG, Mu\u00f1oz E, Tandon A et al (2009) Regulation of SMN protein stability. Mol Cell Biol 29:1107\u20131115. https:\/\/doi.org\/10.1128\/mcb.01262-08","journal-title":"Mol Cell Biol"},{"key":"1_CR90","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1038\/ncb1101-945","volume":"3","author":"G Meister","year":"2001","unstructured":"Meister G, B\u00fchler D, Pillai R et al (2001) A multiprotein complex mediates the ATP-dependent assembly of spliceosomal U snRNPs. Nat Cell Biol 3:945\u2013949. https:\/\/doi.org\/10.1038\/ncb1101-945","journal-title":"Nat Cell Biol"},{"key":"1_CR91","doi-asserted-by":"publisher","first-page":"1775","DOI":"10.1126\/science.1074962","volume":"298","author":"L Pellizzoni","year":"2002","unstructured":"Pellizzoni L, Yong J, Dreyfuss G (2002) Essential role for the SMN complex in the specificity of snRNP assembly. Science 298:1775\u20131779. https:\/\/doi.org\/10.1126\/science.1074962","journal-title":"Science"},{"key":"1_CR92","doi-asserted-by":"publisher","first-page":"1925","DOI":"10.15252\/embj.201490350","volume":"34","author":"N Neuenkirchen","year":"2015","unstructured":"Neuenkirchen N, Englbrecht C, Ohmer J et al (2015) Reconstitution of the human U sn RNP assembly machinery reveals stepwise Sm protein organization. EMBO J 34:1925\u20131941. https:\/\/doi.org\/10.15252\/embj.201490350","journal-title":"EMBO J"},{"key":"1_CR93","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1128\/mcb.06077-11","volume":"32","author":"M Ruggiu","year":"2012","unstructured":"Ruggiu M, McGovern VL, Lotti F et al (2012) A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32:126\u2013138. https:\/\/doi.org\/10.1128\/mcb.06077-11","journal-title":"Mol Cell Biol"},{"key":"1_CR94","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/j.cell.2008.03.031","volume":"133","author":"Z Zhang","year":"2008","unstructured":"Zhang Z, Lotti F, Dittmar K et al (2008) SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing. Cell 133:585\u2013600. https:\/\/doi.org\/10.1016\/j.cell.2008.03.031","journal-title":"Cell"},{"key":"1_CR95","doi-asserted-by":"publisher","first-page":"2215","DOI":"10.1093\/hmg\/ddp157","volume":"18","author":"E Workman","year":"2009","unstructured":"Workman E, Saieva L, Carrel TL et al (2009) A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet 18:2215\u20132229. https:\/\/doi.org\/10.1093\/hmg\/ddp157","journal-title":"Hum Mol Genet"},{"key":"1_CR96","doi-asserted-by":"publisher","first-page":"e921","DOI":"10.1371\/journal.pone.0000921","volume":"2","author":"F Gabanella","year":"2007","unstructured":"Gabanella F, Butchbach MER, Saieva L et al (2007) Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One 2:e921. https:\/\/doi.org\/10.1371\/journal.pone.0000921","journal-title":"PLoS One"},{"key":"1_CR97","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1093\/nar\/gkw731","volume":"45","author":"TK Doktor","year":"2017","unstructured":"Doktor TK, Hua Y, Andersen HS et al (2017) RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns. Nucleic Acids Res 45:395\u2013416. https:\/\/doi.org\/10.1093\/nar\/gkw731","journal-title":"Nucleic Acids Res"},{"key":"1_CR98","doi-asserted-by":"publisher","first-page":"e130574","DOI":"10.1172\/jci.insight.130574","volume":"5","author":"EY Osman","year":"2020","unstructured":"Osman EY, van Alstyne M, Yen PF et al (2020) Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons. JCI Insight 5:e130574. https:\/\/doi.org\/10.1172\/jci.insight.130574","journal-title":"JCI Insight"},{"key":"1_CR99","doi-asserted-by":"publisher","first-page":"440","DOI":"10.1016\/j.cell.2012.09.012","volume":"151","author":"F Lotti","year":"2012","unstructured":"Lotti F, Imlach WL, Saieva L et al (2012) An SMN-dependent U12 splicing event essential for motor circuit function. Cell 151:440\u2013454. https:\/\/doi.org\/10.1016\/j.cell.2012.09.012","journal-title":"Cell"},{"key":"1_CR100","doi-asserted-by":"publisher","first-page":"3885","DOI":"10.1016\/j.celrep.2019.11.058","volume":"29","author":"CM Simon","year":"2019","unstructured":"Simon CM, Van Alstyne M, Lotti F et al (2019) Stasimon contributes to the loss of sensory synapses and motor neuron death in a mouse model of spinal muscular atrophy. Cell Rep 29:3885\u20133901.e5. https:\/\/doi.org\/10.1016\/j.celrep.2019.11.058","journal-title":"Cell Rep"},{"key":"1_CR101","doi-asserted-by":"publisher","first-page":"3767","DOI":"10.1016\/j.celrep.2017.12.003","volume":"21","author":"CM Simon","year":"2017","unstructured":"Simon CM, Dai Y, Van Alstyne M et al (2017) Converging mechanisms of p53 activation drive motor neuron degeneration in spinal muscular atrophy. Cell Rep 21:3767\u20133780. https:\/\/doi.org\/10.1016\/j.celrep.2017.12.003","journal-title":"Cell Rep"},{"key":"1_CR102","doi-asserted-by":"publisher","first-page":"1045","DOI":"10.1101\/gad.316059.118","volume":"32","author":"M Van Alstyne","year":"2018","unstructured":"Van Alstyne M, Simon CM, Sardi SP et al (2018) Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy. Genes Dev 32:1045\u20131059. https:\/\/doi.org\/10.1101\/gad.316059.118","journal-title":"Genes Dev"},{"key":"1_CR103","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1093\/hmg\/9.1.47","volume":"9","author":"S Pagliardini","year":"2000","unstructured":"Pagliardini S, Giavazzi A, Setola V et al (2000) Subcellular localization and axonal transport of the survival motor neuron (SMN) protein in the developing rat spinal cord. Hum Mol Genet 9:47\u201356. https:\/\/doi.org\/10.1093\/hmg\/9.1.47","journal-title":"Hum Mol Genet"},{"key":"1_CR104","doi-asserted-by":"publisher","first-page":"6318","DOI":"10.1093\/hmg\/ddu350","volume":"23","author":"MJ Kye","year":"2014","unstructured":"Kye MJ, Niederst ED, Wertz MH et al (2014) SMN regulates axonal local translation via miR-183\/mTOR pathway. Hum Mol Genet 23:6318\u20136331. https:\/\/doi.org\/10.1093\/hmg\/ddu350","journal-title":"Hum Mol Genet"},{"key":"1_CR105","doi-asserted-by":"publisher","first-page":"942","DOI":"10.1016\/S0140-6736(10)61156-7","volume":"377","author":"MC Kiernan","year":"2011","unstructured":"Kiernan MC, Vucic S, Cheah BC et al (2011) Amyotrophic lateral sclerosis. Lancet 377:942\u2013955","journal-title":"Lancet"},{"key":"1_CR106","doi-asserted-by":"crossref","unstructured":"Rowland LP, Shneider NA (2001) Medical Progress. Amyotrophic lateral sclerosis. N Engl J Med 344:1688\u20131700","DOI":"10.1056\/NEJM200105313442207"},{"key":"1_CR107","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1016\/j.jns.2019.02.030","volume":"399","author":"S Mathis","year":"2019","unstructured":"Mathis S, Goizet C, Soulages A et al (2019) Genetics of amyotrophic lateral sclerosis: a review. J Neurol Sci 399:217\u2013226","journal-title":"J Neurol Sci"},{"key":"1_CR108","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1038\/nn.3584","volume":"17","author":"AE Renton","year":"2014","unstructured":"Renton AE, Chi\u00f2 A, Traynor BJ (2014) State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci 17:17\u201323","journal-title":"Nat Neurosci"},{"key":"1_CR109","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1016\/j.neuron.2013.07.033","volume":"79","author":"SC Ling","year":"2013","unstructured":"Ling SC, Polymenidou M, Cleveland DW (2013) Converging mechanisms in als and FTD: disrupted RNA and protein homeostasis. Neuron 79:416\u2013438","journal-title":"Neuron"},{"key":"1_CR110","doi-asserted-by":"publisher","first-page":"452","DOI":"10.1038\/nn.2778","volume":"14","author":"JR Tollervey","year":"2011","unstructured":"Tollervey JR, Curk T, Rogelj B et al (2011) Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci 14:452\u2013458. https:\/\/doi.org\/10.1038\/nn.2778","journal-title":"Nat Neurosci"},{"key":"1_CR111","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1186\/s12920-017-0274-1","volume":"10","author":"J Humphrey","year":"2017","unstructured":"Humphrey J, Emmett W, Fratta P et al (2017) Quantitative analysis of cryptic splicing associated with TDP-43 depletion. BMC Med Genet 10:38. https:\/\/doi.org\/10.1186\/s12920-017-0274-1","journal-title":"BMC Med Genet"},{"key":"1_CR112","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1126\/science.aab0983","volume":"349","author":"JP Ling","year":"2015","unstructured":"Ling JP, Pletnikova O, Troncoso JC, Wong PC (2015) TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD. Science 349:650\u2013655. https:\/\/doi.org\/10.1126\/science.aab0983","journal-title":"Science"},{"key":"1_CR113","doi-asserted-by":"publisher","first-page":"5083","DOI":"10.1093\/hmg\/ddw337","volume":"25","author":"Q Tan","year":"2016","unstructured":"Tan Q, Yalamanchili HK, Park J et al (2016) Extensive cryptic splicing upon loss of RBM17 and TDP43 in neurodegeneration models. Hum Mol Genet 25:5083\u20135093. https:\/\/doi.org\/10.1093\/hmg\/ddw337","journal-title":"Hum Mol Genet"},{"key":"1_CR114","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/s41593-018-0300-4","volume":"22","author":"JR Klim","year":"2019","unstructured":"Klim JR, Williams LA, Limone F et al (2019) ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair. Nat Neurosci 22:167\u2013179. https:\/\/doi.org\/10.1038\/s41593-018-0300-4","journal-title":"Nat Neurosci"},{"key":"1_CR115","doi-asserted-by":"publisher","first-page":"180","DOI":"10.1038\/s41593-018-0293-z","volume":"22","author":"Z Melamed","year":"2019","unstructured":"Melamed Z, L\u00f3pez-Erauskin J, Baughn MW et al (2019) Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. Nat Neurosci 22:180\u2013190. https:\/\/doi.org\/10.1038\/s41593-018-0293-z","journal-title":"Nat Neurosci"},{"key":"1_CR116","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.pneurobio.2014.09.002","volume":"126","author":"S Chauvin","year":"2015","unstructured":"Chauvin S, Sobel A (2015) Neuronal stathmins: a family of phosphoproteins cooperating for neuronal development, plasticity and regeneration. Prog Neurobiol 126:1\u201318","journal-title":"Prog Neurobiol"},{"key":"1_CR117","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.celrep.2018.12.045","volume":"26","author":"SY Ebstein","year":"2019","unstructured":"Ebstein SY, Yagudayeva I, Shneider NA (2019) Mutant TDP-43 causes early-stage dose-dependent motor neuron degeneration in a TARDBP Knockin mouse model of ALS. Cell Rep 26:364\u2013373.e4. https:\/\/doi.org\/10.1016\/j.celrep.2018.12.045","journal-title":"Cell Rep"},{"key":"1_CR118","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1186\/s40478-015-0212-4","volume":"3","author":"JC Mitchell","year":"2015","unstructured":"Mitchell JC, Constable R, So E et al (2015) Wild type human TDP-43 potentiates ALS-linked mutant TDP-43 driven progressive motor and cortical neuron degeneration with pathological features of ALS. Acta Neuropathol Commun 3:36. https:\/\/doi.org\/10.1186\/s40478-015-0212-4","journal-title":"Acta Neuropathol Commun"},{"key":"1_CR119","doi-asserted-by":"publisher","first-page":"e98684","DOI":"10.15252\/embj.201798684","volume":"37","author":"P Fratta","year":"2018","unstructured":"Fratta P, Sivakumar P, Humphrey J et al (2018) Mice with endogenous TDP -43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis. EMBO J 37:e98684. https:\/\/doi.org\/10.15252\/embj.201798684","journal-title":"EMBO J"},{"key":"1_CR120","doi-asserted-by":"publisher","first-page":"1208","DOI":"10.1126\/science.1165942","volume":"323","author":"C Vance","year":"2009","unstructured":"Vance C, Rogelj B, Hortob\u00e1gyi T et al (2009) Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323:1208\u20131211. https:\/\/doi.org\/10.1126\/science.1165942","journal-title":"Science"},{"key":"1_CR121","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1126\/science.1166066","volume":"323","author":"TJ Kwiatkowski","year":"2009","unstructured":"Kwiatkowski TJ, Bosco DA, LeClerc AL et al (2009) Mutations in the FUS\/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323:1205\u20131208. https:\/\/doi.org\/10.1126\/science.1166066","journal-title":"Science"},{"key":"1_CR122","doi-asserted-by":"publisher","first-page":"2841","DOI":"10.1038\/emboj.2010.143","volume":"29","author":"D Dormann","year":"2010","unstructured":"Dormann D, Rodde R, Edbauer D et al (2010) ALS-associated fused in sarcoma (FUS) mutations disrupt transportin-mediated nuclear import. EMBO J 29:2841\u20132857. https:\/\/doi.org\/10.1038\/emboj.2010.143","journal-title":"EMBO J"},{"key":"1_CR123","doi-asserted-by":"publisher","first-page":"490","DOI":"10.1016\/j.molcel.2018.11.012","volume":"73","author":"FE Loughlin","year":"2019","unstructured":"Loughlin FE, Lukavsky PJ, Kazeeva T et al (2019) The solution structure of FUS bound to RNA reveals a bipartite mode of RNA recognition with both sequence and shape specificity. Mol Cell 73:490\u2013504.e6. https:\/\/doi.org\/10.1016\/j.molcel.2018.11.012","journal-title":"Mol Cell"},{"key":"1_CR124","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1038\/srep00603","volume":"2","author":"B Rogelj","year":"2012","unstructured":"Rogelj B, Easton LE, Bogu GK et al (2012) Widespread binding of FUS along nascent RNA regulates alternative splicing in the brain. Sci Rep 2:603. https:\/\/doi.org\/10.1038\/srep00603","journal-title":"Sci Rep"},{"key":"1_CR125","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1038\/nn.3230","volume":"15","author":"C Lagier-Tourenne","year":"2012","unstructured":"Lagier-Tourenne C, Polymenidou M, Hutt KR et al (2012) Divergent roles of ALS-linked proteins FUS\/TLS and TDP-43 intersect in processing long pre-mRNAs. Nat Neurosci 15:1488\u20131497. https:\/\/doi.org\/10.1038\/nn.3230","journal-title":"Nat Neurosci"},{"key":"1_CR126","doi-asserted-by":"publisher","first-page":"2797","DOI":"10.1093\/brain\/awx248","volume":"140","author":"A Devoy","year":"2017","unstructured":"Devoy A, Kalmar B, Stewart M et al (2017) Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in \u201cFUSDelta14\u201d knockin mice. Brain 140:2797\u20132805. https:\/\/doi.org\/10.1093\/brain\/awx248","journal-title":"Brain"},{"key":"1_CR127","doi-asserted-by":"publisher","first-page":"1077","DOI":"10.15252\/embj.201592559","volume":"35","author":"J Scekic-Zahirovic","year":"2016","unstructured":"Scekic-Zahirovic J, Sendscheid O, El Oussini H et al (2016) Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss. EMBO J 35:1077\u20131097. https:\/\/doi.org\/10.15252\/embj.201592559","journal-title":"EMBO J"},{"key":"1_CR128","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.nbd.2013.03.003","volume":"55","author":"V Gerbino","year":"2013","unstructured":"Gerbino V, Carr\u00ec MT, Cozzolino M, Achsel T (2013) Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm. Neurobiol Dis 55:120\u2013128. https:\/\/doi.org\/10.1016\/j.nbd.2013.03.003","journal-title":"Neurobiol Dis"},{"key":"1_CR129","doi-asserted-by":"publisher","first-page":"6171","DOI":"10.1038\/ncomms7171","volume":"6","author":"S Sun","year":"2015","unstructured":"Sun S, Ling SC, Qiu J et al (2015) ALS-causative mutations in FUS\/TLS confer gain and loss of function by altered association with SMN and U1-snRNP. Nat Commun 6:6171. https:\/\/doi.org\/10.1038\/ncomms7171","journal-title":"Nat Commun"},{"key":"1_CR130","doi-asserted-by":"publisher","first-page":"3208","DOI":"10.1093\/nar\/gkv157","volume":"43","author":"Y Yu","year":"2015","unstructured":"Yu Y, Chi B, Xia W et al (2015) U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish. Nucleic Acids Res 43:3208\u20133218. https:\/\/doi.org\/10.1093\/nar\/gkv157","journal-title":"Nucleic Acids Res"},{"key":"1_CR131","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/s41582-020-0330-x","volume":"16","author":"F Panza","year":"2020","unstructured":"Panza F, Lozupone M, Seripa D et al (2020) Development of disease-modifying drugs for frontotemporal dementia spectrum disorders. Nat Rev Neurol 16:213\u2013228","journal-title":"Nat Rev Neurol"},{"key":"1_CR132","doi-asserted-by":"publisher","first-page":"1467","DOI":"10.3233\/JAD-171087","volume":"62","author":"JR Hodges","year":"2018","unstructured":"Hodges JR, Piguet O (2018) Progress and challenges in frontotemporal dementia research: a 20-year review. J Alzheimers Dis 62:1467\u20131480","journal-title":"J Alzheimers Dis"},{"key":"1_CR133","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1038\/31508","volume":"393","author":"M Hutton","year":"1998","unstructured":"Hutton M, Lendon CL, Rizzu P et al (1998) Association of missense and 5\u2032-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 393:702\u2013704. https:\/\/doi.org\/10.1038\/31508","journal-title":"Nature"},{"key":"1_CR134","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1186\/1750-1172-1-30","volume":"1","author":"ZK Wszolek","year":"2006","unstructured":"Wszolek ZK, Tsuboi Y, Ghetti B et al (2006) Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Orphanet J Rare Dis 1:30","journal-title":"Orphanet J Rare Dis"},{"key":"1_CR135","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/j.stemcr.2015.06.001","volume":"5","author":"M Ehrlich","year":"2015","unstructured":"Ehrlich M, Hallmann AL, Reinhardt P et al (2015) Distinct neurodegenerative changes in an induced pluripotent stem cell model of frontotemporal dementia linked to mutant TAU protein. Stem Cell Rep 5:83\u201396. https:\/\/doi.org\/10.1016\/j.stemcr.2015.06.001","journal-title":"Stem Cell Rep"},{"key":"1_CR136","doi-asserted-by":"publisher","first-page":"104","DOI":"10.1016\/j.bbadis.2004.08.009","volume":"1739","author":"I D\u2019Souza","year":"2005","unstructured":"D\u2019Souza I, Schellenberg GD (2005) Regulation of tau isoform expression and dementia. Biochim Biophys Acta Mol basis Dis 1739:104\u2013115","journal-title":"Biochim Biophys Acta Mol basis Dis"},{"key":"1_CR137","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1007\/s00401-017-1707-9","volume":"133","author":"T Guo","year":"2017","unstructured":"Guo T, Noble W, Hanger DP (2017) Roles of tau protein in health and disease. Acta Neuropathol 133:665\u2013704","journal-title":"Acta Neuropathol"},{"key":"1_CR138","doi-asserted-by":"publisher","first-page":"677","DOI":"10.1042\/BST20120091","volume":"40","author":"M Niblock","year":"2012","unstructured":"Niblock M, Gallo JM (2012) Tau alternative splicing in familial and sporadic tauopathies. Biochem Soc Trans 40:677\u2013680","journal-title":"Biochem Soc Trans"},{"key":"1_CR139","doi-asserted-by":"publisher","first-page":"1","DOI":"10.6064\/2012\/796024","volume":"2012","author":"MS Wolfe","year":"2012","unstructured":"Wolfe MS (2012) The role of tau in neurodegenerative diseases and its potential as a therapeutic target. Scientifica (Cairo) 2012:1\u201320. https:\/\/doi.org\/10.6064\/2012\/796024","journal-title":"Scientifica (Cairo)"},{"key":"1_CR140","doi-asserted-by":"publisher","first-page":"15134","DOI":"10.1074\/jbc.274.21.15134","volume":"274","author":"A Grover","year":"1999","unstructured":"Grover A, Houlden H, Baker M et al (1999) 5\u2032 splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10. J Biol Chem 274:15134\u201315143. https:\/\/doi.org\/10.1074\/jbc.274.21.15134","journal-title":"J Biol Chem"},{"key":"1_CR141","doi-asserted-by":"publisher","first-page":"1220","DOI":"10.1002\/jcp.22842","volume":"227","author":"A Andreadis","year":"2012","unstructured":"Andreadis A (2012) Tau splicing and the intricacies of dementia. J Cell Physiol 227:1220\u20131225","journal-title":"J Cell Physiol"},{"key":"1_CR142","doi-asserted-by":"publisher","first-page":"24479","DOI":"10.1074\/jbc.M603971200","volume":"281","author":"A Kar","year":"2006","unstructured":"Kar A, Havlioglu N, Tarn WY, Wu JY (2006) RBM4 interacts with an intronic element and stimulates tau exon 10 inclusion. J Biol Chem 281:24479\u201324488. https:\/\/doi.org\/10.1074\/jbc.M603971200","journal-title":"J Biol Chem"},{"key":"1_CR143","doi-asserted-by":"publisher","first-page":"2760","DOI":"10.1093\/hmg\/ddm233","volume":"16","author":"PJ Chapple","year":"2007","unstructured":"Chapple PJ, Anthony K, Martin TR et al (2007) Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4. Hum Mol Genet 16:2760\u20132769. https:\/\/doi.org\/10.1093\/hmg\/ddm233","journal-title":"Hum Mol Genet"},{"key":"1_CR144","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.mcn.2006.10.004","volume":"34","author":"L Gao","year":"2007","unstructured":"Gao L, Wang J, Wang Y, Andreadis A (2007) SR protein 9G8 modulates splicing of tau exon 10 via its proximal downstream intron, a clustering region for frontotemporal dementia mutations. Mol Cell Neurosci 34:48\u201358. https:\/\/doi.org\/10.1016\/j.mcn.2006.10.004","journal-title":"Mol Cell Neurosci"},{"key":"1_CR145","doi-asserted-by":"publisher","first-page":"1812","DOI":"10.1128\/mcb.01149-10","volume":"31","author":"A Kar","year":"2011","unstructured":"Kar A, Fushimi K, Zhou X et al (2011) RNA helicase p68 (DDX5) regulates tau exon 10 splicing by modulating a stem-loop structure at the 5\u2019 splice site. Mol Cell Biol 31:1812\u20131821. https:\/\/doi.org\/10.1128\/mcb.01149-10","journal-title":"Mol Cell Biol"},{"key":"1_CR146","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1111\/j.1356-9597.2004.00709.x","volume":"9","author":"S Kondo","year":"2004","unstructured":"Kondo S, Yamamoto N, Murakami T et al (2004) Tra2\u03b2, SF2\/ASF and SRp30c modulate the function of an exonic splicing enhancer in exon 10 of tau pre-mRNA. Genes Cells 9:121\u2013130. https:\/\/doi.org\/10.1111\/j.1356-9597.2004.00709.x","journal-title":"Genes Cells"},{"key":"1_CR147","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1038\/s41374-019-0197-x","volume":"99","author":"KH Strang","year":"2019","unstructured":"Strang KH, Golde TE, Giasson BI (2019) MAPT mutations, tauopathy, and mechanisms of neurodegeneration. Lab Investig 99:912\u2013928","journal-title":"Lab Investig"}],"container-title":["Methods in Molecular Biology","Alternative Splicing"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-0716-2521-7_1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,27]],"date-time":"2022-07-27T16:33:18Z","timestamp":1658939598000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-1-0716-2521-7_1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022]]},"ISBN":["9781071625200","9781071625217"],"references-count":147,"URL":"https:\/\/doi.org\/10.1007\/978-1-0716-2521-7_1","relation":{},"ISSN":["1064-3745","1940-6029"],"issn-type":[{"value":"1064-3745","type":"print"},{"value":"1940-6029","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022]]},"assertion":[{"value":"28 July 2022","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}