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Pathological impact of SMN 2 mis‐splicing in adult SMA mice
dc.contributor.authorSahashi, Kentaroen_US
dc.contributor.authorLing, Karen K. Y.en_US
dc.contributor.authorHua, Yiminen_US
dc.contributor.authorWilkinson, John Erbyen_US
dc.contributor.authorNomakuchi, Tomokien_US
dc.contributor.authorRigo, Franken_US
dc.contributor.authorHung, Geneen_US
dc.contributor.authorXu, Daviden_US
dc.contributor.authorJiang, Ya‐pingen_US
dc.contributor.authorLin, Richard Z.en_US
dc.contributor.authorKo, Chien‐pingen_US
dc.contributor.authorBennett, C. Franken_US
dc.contributor.authorKrainer, Adrian R.en_US
dc.date.accessioned2013-12-04T18:58:08Z
dc.date.available2014-12-01T17:22:26Zen_US
dc.date.issued2013-10en_US
dc.identifier.citationSahashi, Kentaro; Ling, Karen K. Y.; Hua, Yimin; Wilkinson, John Erby; Nomakuchi, Tomoki; Rigo, Frank; Hung, Gene; Xu, David; Jiang, Ya‐ping ; Lin, Richard Z.; Ko, Chien‐ping ; Bennett, C. Frank; Krainer, Adrian R. (2013). "Pathological impact of SMN 2 misâ splicing in adult SMA mice." EMBO Molecular Medicine 5(10): 1586-1601.en_US
dc.identifier.issn1757-4676en_US
dc.identifier.issn1757-4684en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/101869
dc.publisherCRC Pressen_US
dc.publisherWiley Periodicals, Inc.en_US
dc.subject.otherSpinal Muscular Atrophyen_US
dc.subject.otherSplicingen_US
dc.subject.otherPathologyen_US
dc.subject.otherAdult‐Onset SMAen_US
dc.subject.otherSMN 2en_US
dc.titlePathological impact of SMN 2 mis‐splicing in adult SMA miceen_US
dc.typeArticleen_US
dc.rights.robotsIndexNoFollowen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/101869/1/emmm201302567-reviewer_comments.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/101869/2/emmm201302567.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/101869/3/emmm201302567-sm-0002-SuppFig-S1.pdf
dc.identifier.doi10.1002/emmm.201302567en_US
dc.identifier.sourceEMBO Molecular Medicineen_US
dc.identifier.citedreferenceMiles GB, Hartley R, Todd AJ, Brownstone RM ( 2007 ) Spinal cholinergic interneurons regulate the excitability of motoneurons during locomotion. Proc Natl Acad Sci USA 104: 2448 - 2453en_US
dc.identifier.citedreferenceLi Y, Thompson WJ ( 2011 ) Nerve terminal growth remodels neuromuscular synapses in mice following regeneration of the postsynaptic muscle fiber. J Neurosci 31: 13191 - 13203en_US
dc.identifier.citedreferenceLing KK, Gibbs RM, Feng Z, Ko CP ( 2012 ) Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy. Hum Mol Genet 21: 185 - 195en_US
dc.identifier.citedreferenceLing KK, Lin MY, Zingg B, Feng Z, Ko CP ( 2010 ) Synaptic defects in the spinal and neuromuscular circuitry in a mouse model of spinal muscular atrophy. PLoS ONE 5: e15457en_US
dc.identifier.citedreferenceLunn MR, Wang CH ( 2008 ) Spinal muscular atrophy. Lancet 371: 2120 - 2133en_US
dc.identifier.citedreferenceLutz CM, Kariya S, Patruni S, Osborne MA, Liu D, Henderson CE, Li DK, Pellizzoni L, Rojas J, Valenzuela DM, et al ( 2011 ) Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest 121: 3029 - 3041en_US
dc.identifier.citedreferenceLyons PR, Slater CR ( 1991 ) Structure and function of the neuromuscular junction in young adult mdx mice. J Neurocytol 20: 969 - 981en_US
dc.identifier.citedreferenceMa Z, Lee SS ( 1996 ) Cirrhotic cardiomyopathy: getting to the heart of the matter. Hepatology 24: 451 - 459en_US
dc.identifier.citedreferenceMcAndrew PE, Parsons DW, Simard LR, Rochette C, Ray PN, Mendell JR, Prior TW, Burghes AH ( 1997 ) Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet 60: 1411 - 1422en_US
dc.identifier.citedreferenceMentis GZ, Blivis D, Liu W, Drobac E, Crowder ME, Kong L, Alvarez FJ, Sumner CJ, O'Donovan MJ ( 2011 ) Early functional impairment of sensory‐motor connectivity in a mouse model of spinal muscular atrophy. Neuron 69: 453 - 467en_US
dc.identifier.citedreferenceMoller S, Henriksen JH ( 2010 ) Cirrhotic cardiomyopathy. J Hepatol 53: 179 - 190en_US
dc.identifier.citedreferenceMonani UR, Sendtner M, Coovert DD, Parsons DW, Andreassi C, Le TT, Jablonka S, Schrank B, Rossoll W, Prior TW, et al ( 2000 ) The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(−/−) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet 9: 333 - 339en_US
dc.identifier.citedreferenceMurray LM, Comley LH, Thomson D, Parkinson N, Talbot K, Gillingwater TH ( 2008 ) Selective vulnerability of motor neurons and dissociation of pre‐ and post‐synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy. Hum Mol Genet 17: 949 - 962en_US
dc.identifier.citedreferenceOliveira AL, Hydling F, Olsson E, Shi T, Edwards RH, Fujiyama F, Kaneko T, Hokfelt T, Cullheim S, Meister B ( 2003 ) Cellular localization of three vesicular glutamate transporter mRNAs and proteins in rat spinal cord and dorsal root ganglia. Synapse 50: 117 - 129en_US
dc.identifier.citedreferencePalazzolo I, Stack C, Kong L, Musaro A, Adachi H, Katsuno M, Sobue G, Taylor JP, Sumner CJ, Fischbeck KH, et al ( 2009 ) Overexpression of IGF‐1 in muscle attenuates disease in a mouse model of spinal and bulbar muscular atrophy. Neuron 63: 316 - 328en_US
dc.identifier.citedreferencePark GH, Kariya S, Monani UR ( 2010a ) Spinal muscular atrophy: new and emerging insights from model mice. Curr Neurol Neurosci Rep 10: 108 - 117en_US
dc.identifier.citedreferencePark GH, Maeno‐Hikichi Y, Awano T, Landmesser LT, Monani UR ( 2010b ) Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene. J Neurosci 30: 12005 - 12019en_US
dc.identifier.citedreferencePassini MA, Bu J, Richards AM, Kinnecom C, Sardi SP, Stanek LM, Hua Y, Rigo F, Matson J, Hung G, et al ( 2011 ) Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy. Sci Transl Med 3: 72ra18en_US
dc.identifier.citedreferenceRiessland M, Ackermann B, Forster A, Jakubik M, Hauke J, Garbes L, Fritzsche I, Mende Y, Blumcke I, Hahnen E, et al ( 2010 ) SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy. Hum Mol Genet 19: 1492 - 1506en_US
dc.identifier.citedreferenceRudnik‐Schoneborn S, Heller R, Berg C, Betzler C, Grimm T, Eggermann T, Eggermann K, Wirth R, Wirth B, Zerres K ( 2008 ) Congenital heart disease is a feature of severe infantile spinal muscular atrophy. J Med Genet 45: 635 - 638en_US
dc.identifier.citedreferenceRuggiu M, McGovern VL, Lotti F, Saieva L, Li DK, Kariya S, Monani UR, Burghes AH, Pellizzoni L ( 2012 ) A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol 32: 126 - 138en_US
dc.identifier.citedreferenceSahashi K, Hua Y, Ling KK, Hung G, Rigo F, Horev G, Katsuno M, Sobue G, Ko CP, Bennett CF, et al ( 2012 ) TSUNAMI: an antisense method to phenocopy splicing‐associated diseases in animals. Genes Dev 26: 1874 - 1884en_US
dc.identifier.citedreferenceSchrank B, Gotz R, Gunnersen JM, Ure JM, Toyka KV, Smith AG, Sendtner M ( 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 USA 94: 9920 - 9925en_US
dc.identifier.citedreferenceShababi M, Glascock J, Lorson CL ( 2011 ) Combination of SMN trans‐splicing and a neurotrophic factor increases the life span and body mass in a severe model of spinal muscular atrophy. Hum Gene Ther 22: 135 - 144en_US
dc.identifier.citedreferenceSingh NK, Singh NN, Androphy EJ, Singh RN ( 2006 ) Splicing of a critical exon of human Survival Motor Neuron is regulated by a unique silencer element located in the last intron. Mol Cell Biol 26: 1333 - 1346en_US
dc.identifier.citedreferenceSjogren K, Liu JL, Blad K, Skrtic S, Vidal O, Wallenius V, LeRoith D, Tornell J, Isaksson OG, Jansson JO, et al ( 1999 ) Liver‐derived insulin‐like growth factor I (IGF‐I) is the principal source of IGF‐I in blood but is not required for postnatal body growth in mice. Proc Natl Acad Sci USA 96: 7088 - 7092en_US
dc.identifier.citedreferenceSteele AD, Jackson WS, King OD, Lindquist S ( 2007 ) The power of automated high‐resolution behavior analysis revealed by its application to mouse models of Huntington's and prion diseases. Proc Natl Acad Sci USA 104: 1983 - 1988en_US
dc.identifier.citedreferenceStewart PA, Hayakawa EM ( 1987 ) Interendothelial junctional changes underlie the developmental ‘tightening’ of the blood–brain barrier. Brain Res 429: 271 - 281en_US
dc.identifier.citedreferenceVasan RS, Sullivan LM, D'Agostino RB, Roubenoff R, Harris T, Sawyer DB, Levy D, Wilson PW ( 2003 ) Serum insulin‐like growth factor I and risk for heart failure in elderly individuals without a previous myocardial infarction: the Framingham Heart Study. Ann Intern Med 139: 642 - 648en_US
dc.identifier.citedreferenceVitte JM, Davoult B, Roblot N, Mayer M, Joshi V, Courageot S, Tronche F, Vadrot J, Moreau MH, Kemeny F, et al ( 2004 ) Deletion of murine Smn exon 7 directed to liver leads to severe defect of liver development associated with iron overload. Am J Pathol 165: 1731 - 1741en_US
dc.identifier.citedreferenceWitts EC, Zagoraiou L, Miles GB ( 2013 ) Anatomy and function of cholinergic C bouton inputs to motor neurons. J Anat DOI: 10.1111/joa.12063en_US
dc.identifier.citedreferenceZagoraiou L, Akay T, Martin JF, Brownstone RM, Jessell TM, Miles GB ( 2009 ) A cluster of cholinergic premotor interneurons modulates mouse locomotor activity. Neuron 64: 645 - 662en_US
dc.identifier.citedreferenceAlnaqeeb MA, Goldspink G ( 1987 ) Changes in fibre type, number and diameter in developing and ageing skeletal muscle. J Anat 153: 31 - 45en_US
dc.identifier.citedreferenceBaxter RC, Dai J ( 1994 ) Purification and characterization of the acid‐labile subunit of rat serum insulin‐like growth factor binding protein complex. Endocrinology 134: 848 - 852en_US
dc.identifier.citedreferenceBebee TW, Dominguez CE, Samadzadeh‐Tarighat S, Akehurst KL, Chandler DS ( 2012 ) Hypoxia is a modifier of SMN2 splicing and disease severity in a severe SMA mouse model. Hum Mol Genet 21: 4301 - 4313en_US
dc.identifier.citedreferenceBennett CF, Swayze EE ( 2010 ) RNA targeting therapeutics: molecular mechanisms of antisense oligonucleotides as a therapeutic platform. Annu Rev Pharmacol Toxicol 50: 259 - 293en_US
dc.identifier.citedreferenceBevan AK, Hutchinson KR, Foust KD, Braun L, McGovern VL, Schmelzer L, Ward JG, Petruska JC, Lucchesi PA, Burghes AH, et al ( 2010 ) Early heart failure in the SMNDelta7 model of spinal muscular atrophy and correction by postnatal scAAV9‐SMN delivery. Hum Mol Genet 19: 3895 - 3905en_US
dc.identifier.citedreferenceBosch‐Marce M, Wee CD, Martinez TL, Lipkes CE, Choe DW, Kong L, Van Meerbeke JP, Musaro A, Sumner CJ ( 2011 ) Increased IGF‐1 in muscle modulates the phenotype of severe SMA mice. Hum Mol Genet 20: 1844 - 1853en_US
dc.identifier.citedreferenceBurghes AH, Beattie CE ( 2009 ) Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick ? Nat Rev Neurosci 10: 597 - 609en_US
dc.identifier.citedreferenceCartegni L, Chew SL, Krainer AR ( 2002 ) Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat Rev Genet 3: 285 - 298en_US
dc.identifier.citedreferenceCoovert DD, Le TT, McAndrew PE, Strasswimmer J, Crawford TO, Mendell JR, Coulson SE, Androphy EJ, Prior TW, Burghes AH ( 1997 ) The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet 6: 1205 - 1214en_US
dc.identifier.citedreferenceCouteaux R, Mira JC, d'Albis A ( 1988 ) Regeneration of muscles after cardiotoxin injury. I. Cytological aspects. Biol Cell 62: 171 - 182en_US
dc.identifier.citedreferenceCrooke ST ( 2007 ) Antisense Drug Technology: Principles, Strategies, and Applications, second edition, Boca Raton, FL: CRC Pressen_US
dc.identifier.citedreferenceDai J, Baxter RC ( 1994 ) Regulation in vivo of the acid‐labile subunit of the rat serum insulin‐like growth factor‐binding protein complex. Endocrinology 135: 2335 - 2341en_US
dc.identifier.citedreferenceDodge JC, Treleaven CM, Fidler JA, Hester M, Haidet A, Handy C, Rao M, Eagle A, Matthews JC, Taksir TV, et al ( 2010 ) AAV4‐mediated expression of IGF‐1 and VEGF within cellular components of the ventricular system improves survival outcome in familial ALS mice. Mol Ther: J Am Soc Gene Ther 18: 2075 - 2084en_US
dc.identifier.citedreferenceDubowitz V, Sewry CA ( 2007 ) Muscle Biopsy: A Practical Approach, third edition, Amsterdam, Netherlands: Elsevieren_US
dc.identifier.citedreferenceDuchen LW, Excell BJ, Patel R, Smith B ( 1974 ) Changes in motor end‐plates resulting from muscle fibre necrosis and regeneration. A light and electron microscopic study of the effects of the depolarizing fraction (cardiotoxin) of Dendroaspis jamesoni venom. J Neurol Sci 21: 391 - 417en_US
dc.identifier.citedreferenceFoust KD, Wang X, McGovern VL, Braun L, Bevan AK, Haidet AM, Le TT, Morales PR, Rich MM, Burghes AH, et al ( 2010 ) Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nat Biotechnol 28: 271 - 274en_US
dc.identifier.citedreferenceGavrilina TO, McGovern VL, Workman E, Crawford TO, Gogliotti RG, DiDonato CJ, Monani UR, Morris GE, Burghes AH ( 2008 ) Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle‐specific SMN expression has no phenotypic effect. Hum Mol Genet 17: 1063 - 1075en_US
dc.identifier.citedreferenceGogliotti RG, Quinlan KA, Barlow CB, Heier CR, Heckman CJ, Didonato CJ ( 2012 ) Motor neuron rescue in spinal muscular atrophy mice demonstrates that sensory‐motor defects are a consequence, not a cause, of motor neuron dysfunction. J Neurosci 32: 3818 - 3829en_US
dc.identifier.citedreferenceHeier CR, Satta R, Lutz C, DiDonato CJ ( 2010 ) Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice. Hum Mol Genet 19: 3906 - 3918en_US
dc.identifier.citedreferenceHofmann Y, Lorson CL, Stamm S, Androphy EJ, Wirth B ( 2000 ) Htra2‐beta 1 stimulates an exonic splicing enhancer and can restore full‐length SMN expression to survival motor neuron 2 (SMN2). Proc Natl Acad Sci USA 97: 9618 - 9623en_US
dc.identifier.citedreferenceHsieh‐Li HM, Chang JG, Jong YJ, Wu MH, Wang NM, Tsai CH, Li H ( 2000 ) A mouse model for spinal muscular atrophy. Nat Genet 24: 66 - 70en_US
dc.identifier.citedreferenceHua Y, Sahashi K, Hung G, Rigo F, Passini MA, Bennett CF, Krainer AR ( 2010 ) Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model. Genes Dev 24: 1634 - 1644en_US
dc.identifier.citedreferenceHua Y, Sahashi K, Rigo F, Hung G, Horev G, Bennett CF, Krainer AR ( 2011 ) Peripheral SMN restoration is essential for long‐term rescue of a severe spinal muscular atrophy mouse model. Nature 478: 123 - 126en_US
dc.identifier.citedreferenceHua Y, Vickers TA, Baker BF, Bennett CF, Krainer AR ( 2007 ) Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol 5: e73en_US
dc.identifier.citedreferenceHua Y, Vickers TA, Okunola HL, Bennett CF, Krainer AR ( 2008 ) Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am J Hum Genet 82: 834 - 848en_US
dc.identifier.citedreferenceJodelka FM, Ebert AD, Duelli DM, Hastings ML ( 2010 ) A feedback loop regulates splicing of the spinal muscular atrophy‐modifying gene, SMN2. Hum Mol Genet 19: 4906 - 4917en_US
dc.identifier.citedreferenceJuul A, Scheike T, Davidsen M, Gyllenborg J, Jorgensen T ( 2002 ) Low serum insulin‐like growth factor I is associated with increased risk of ischemic heart disease: a population‐based case‐control study. Circulation 106: 939 - 944en_US
dc.identifier.citedreferenceKariya S, Park GH, Maeno‐Hikichi Y, Leykekhman O, Lutz C, Arkovitz MS, Landmesser LT, Monani UR ( 2008 ) Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy. Hum Mol Genet 17: 2552 - 2569en_US
dc.identifier.citedreferenceKong L, Wang X, Choe DW, Polley M, Burnett BG, Bosch‐Marce M, Griffin JW, Rich MM, Sumner CJ ( 2009 ) Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice. J Neurosci 29: 842 - 851en_US
dc.identifier.citedreferenceKummer TT, Misgeld T, Lichtman JW, Sanes JR ( 2004 ) Nerve‐independent formation of a topologically complex postsynaptic apparatus. J Cell Biol 164: 1077 - 1087en_US
dc.identifier.citedreferenceLayman DK, Hegarty PV, Swan PB ( 1980 ) Comparison of morphological and biochemical parameters of growth in rat skeletal muscles. J Anat 130: 159 - 171en_US
dc.identifier.citedreferenceLe TT, McGovern VL, Alwine IE, Wang X, Massoni‐Laporte A, Rich MM, Burghes AH ( 2011 ) Temporal requirement for high SMN expression in SMA mice. Hum Mol Genet 20: 3578 - 3591en_US
dc.identifier.citedreferenceLe TT, Pham LT, Butchbach ME, Zhang HL, Monani UR, Coovert DD, Gavrilina TO, Xing L, Bassell GJ, Burghes AH ( 2005 ) 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. Hum Mol Genet 14: 845 - 857en_US
dc.identifier.citedreferenceLee YI, Mikesh M, Smith I, Rimer M, Thompson W ( 2011 ) Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons. Dev Biol 356: 432 - 444en_US
dc.identifier.citedreferenceLi Y, Lee Y, Thompson WJ ( 2011 ) Changes in aging mouse neuromuscular junctions are explained by degeneration and regeneration of muscle fiber segments at the synapse. J Neurosci 31: 14910 - 14919en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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