My Bibliography

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Hassan A, di Vito R, Nuzzo T, Vidali M, Carlini MJ, Yadav S, Yang H, D'Amico A, Kolici X, Valsecchi V, Panicucci C, Pignataro G, Bruno C, Bertini E, Errico F, Pellizzoni L, Usiello A. Dysregulated balance of D- and L-amino acids modulating glutamatergic neurotransmission in severe spinal muscular atrophy. bioRxiv. 2024 Oct 22;. doi: 10.1101/2024.10.22.619645. PubMed PMID: 39484528; PubMed Central PMCID: PMC11526884.

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Fletcher EV, Chalif JI, Rotterman TM, Pagiazitis JG, Alstyne MV, Sivakumar N, Rabinowitz JE, Pellizzoni L, Alvarez FJ, Mentis GZ. Synaptic imbalance and increased inhibition impair motor function in SMA. bioRxiv. 2024 Sep 1;. doi: 10.1101/2024.08.30.610545. PubMed PMID: 39257773; PubMed Central PMCID: PMC11383993.

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Carlini MJ, Van Alstyne M, Yang H, Yadav S, Shneider NA, Pellizzoni L. Stasimon/Tmem41b is required for cell proliferation and adult mouse survival. Biochem Biophys Res Commun. 2024 Jun 18;712-713:149923. doi: 10.1016/j.bbrc.2024.149923. Epub 2024 Apr 16. PubMed PMID: 38640735; PubMed Central PMCID: PMC11066899.

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Simon CM, Delestree N, Montes J, Gerstner F, Carranza E, Sowoidnich L, Buettner JM, Pagiazitis JG, Prat-Ortega G, Ensel S, Donadio S, Garcia JL, Kratimenos P, Chung WK, Sumner CJ, Weimer LH, Pirondini E, Capogrosso M, Pellizzoni L, De Vivo DC, Mentis GZ. Dysfunction of proprioceptive sensory synapses is a pathogenic event and therapeutic target in mice and humans with spinal muscular atrophy. medRxiv. 2024 Jun 4;. doi: 10.1101/2024.06.03.24308132. PubMed PMID: 38883729; PubMed Central PMCID: PMC11177917.

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Lumpkin CJ, Harris AW, Connell AJ, Kirk RW, Whiting JA, Saieva L, Pellizzoni L, Burghes AHM, Butchbach MER. Evaluation of the orally bioavailable 4-phenylbutyrate-tethered trichostatin A analogue AR42 in models of spinal muscular atrophy. Sci Rep. 2023 Jun 26;13(1):10374. doi: 10.1038/s41598-023-37496-0. PubMed PMID: 37365234; PubMed Central PMCID: PMC10293174.

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Nuzzo T, Russo R, Errico F, D'Amico A, Tewelde AG, Valletta M, Hassan A, Tosi M, Panicucci C, Bruno C, Bertini E, Chambery A, Pellizzoni L, Usiello A. Nusinersen mitigates neuroinflammation in severe spinal muscular atrophy patients. Commun Med (Lond). 2023 Feb 15;3(1):28. doi: 10.1038/s43856-023-00256-2. PubMed PMID: 36792810; PubMed Central PMCID: PMC9932014.

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Chen L, Roake CM, Maccallini P, Bavasso F, Dehghannasiri R, Santonicola P, Mendoza-Ferreira N, Scatolini L, Rizzuti L, Esposito A, Gallotta I, Francia S, Cacchione S, Galati A, Palumbo V, Kobin MA, Tartaglia GG, Colantoni A, Proietti G, Wu Y, Hammerschmidt M, De Pittà C, Sales G, Salzman J, Pellizzoni L, Wirth B, Di Schiavi E, Gatti M, Artandi SE, Raffa GD. TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration. Nucleic Acids Res. 2022 Nov 28;50(21):12400-12424. doi: 10.1093/nar/gkac659. PubMed PMID: 35947650; PubMed Central PMCID: PMC9757054.

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Errico F, Marino C, Grimaldi M, Nuzzo T, Bassareo V, Valsecchi V, Panicucci C, Di Schiavi E, Mazza T, Bruno C, D'Amico A, Carta M, D'Ursi AM, Bertini E, Pellizzoni L, Usiello A. Nusinersen Induces Disease-Severity-Specific Neurometabolic Effects in Spinal Muscular Atrophy. Biomolecules. 2022 Oct 6;12(10). doi: 10.3390/biom12101431. PubMed PMID: 36291640; PubMed Central PMCID: PMC9599672.

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Tisdale S, Van Alstyne M, Simon CM, Mentis GZ, Pellizzoni L. SMN controls neuromuscular junction integrity through U7 snRNP. Cell Rep. 2022 Sep 20;40(12):111393. doi: 10.1016/j.celrep.2022.111393. PubMed PMID: 36130491; PubMed Central PMCID: PMC9533342.

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Carlini MJ, Triplett MK, Pellizzoni L. Neuromuscular denervation and deafferentation but not motor neuron death are disease features in the Smn2B/- mouse model of SMA. PLoS One. 2022;17(8):e0267990. doi: 10.1371/journal.pone.0267990. eCollection 2022. PubMed PMID: 35913953; PubMed Central PMCID: PMC9342749.

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Van Alstyne M, Tattoli I, Delestrée N, Recinos Y, Workman E, Shihabuddin LS, Zhang C, Mentis GZ, Pellizzoni L. Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensorimotor circuit. Nat Neurosci. 2021 Jul;24(7):930-940. doi: 10.1038/s41593-021-00827-3. Epub 2021 Apr 1. PubMed PMID: 33795885; PubMed Central PMCID: PMC8254787.

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Osman EY, Van Alstyne M, Yen PF, Lotti F, Feng Z, Ling KK, Ko CP, Pellizzoni L, Lorson CL. Minor snRNA gene delivery improves the loss of proprioceptive synapses on SMA motor neurons. JCI Insight. 2020 Jun 18;5(12). doi: 10.1172/jci.insight.130574. PubMed PMID: 32516136; PubMed Central PMCID: PMC7406293.

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Simon CM, Van Alstyne M, Lotti F, Bianchetti E, Tisdale S, Watterson DM, Mentis GZ, Pellizzoni L. Stasimon Contributes to the Loss of Sensory Synapses and Motor Neuron Death in a Mouse Model of Spinal Muscular Atrophy. Cell Rep. 2019 Dec 17;29(12):3885-3901.e5. doi: 10.1016/j.celrep.2019.11.058. PubMed PMID: 31851921; PubMed Central PMCID: PMC6956708.

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Briese M, Haberman N, Sibley CR, Faraway R, Elser AS, Chakrabarti AM, Wang Z, König J, Perera D, Wickramasinghe VO, Venkitaraman AR, Luscombe NM, Saieva L, Pellizzoni L, Smith CWJ, Curk T, Ule J. A systems view of spliceosomal assembly and branchpoints with iCLIP. Nat Struct Mol Biol. 2019 Oct;26(10):930-940. doi: 10.1038/s41594-019-0300-4. Epub 2019 Sep 30. PubMed PMID: 31570875; PubMed Central PMCID: PMC6859068.

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Osman EY, Bolding MR, Villalón E, Kaifer KA, Lorson ZC, Tisdale S, Hao Y, Conant GC, Pires JC, Pellizzoni L, Lorson CL. Functional characterization of SMN evolution in mouse models of SMA. Sci Rep. 2019 Jul 1;9(1):9472. doi: 10.1038/s41598-019-45822-8. PubMed PMID: 31263170; PubMed Central PMCID: PMC6603021.

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Mauer J, Sindelar M, Despic V, Guez T, Hawley BR, Vasseur JJ, Rentmeister A, Gross SS, Pellizzoni L, Debart F, Goodarzi H, Jaffrey SR. FTO controls reversible m(6)Am RNA methylation during snRNA biogenesis. Nat Chem Biol. 2019 Apr;15(4):340-347. doi: 10.1038/s41589-019-0231-8. Epub 2019 Feb 18. PubMed PMID: 30778204; PubMed Central PMCID: PMC6984009.

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Dermentzaki G, Politi KA, Lu L, Mishra V, Pérez-Torres EJ, Sosunov AA, McKhann GM 2nd, Lotti F, Shneider NA, Przedborski S. Deletion of Ripk3 Prevents Motor Neuron Death In Vitro but not In Vivo. eNeuro. 2019 Jan-Feb;6(1). doi: 10.1523/ENEURO.0308-18.2018. eCollection 2019 Jan-Feb. PubMed PMID: 30815534; PubMed Central PMCID: PMC6391588.

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Van Alstyne M, Lotti F, Dal Mas A, Area-Gomez E, Pellizzoni L. Stasimon/Tmem41b localizes to mitochondria-associated ER membranes and is essential for mouse embryonic development. Biochem Biophys Res Commun. 2018 Nov 30;506(3):463-470. doi: 10.1016/j.bbrc.2018.10.073. Epub 2018 Oct 22. PubMed PMID: 30352685; PubMed Central PMCID: PMC6242727.

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Iyer CC, Corlett KM, Massoni-Laporte A, Duque SI, Madabusi N, Tisdale S, McGovern VL, Le TT, Zaworski PG, Arnold WD, Pellizzoni L, Burghes AHM. Mild SMN missense alleles are only functional in the presence of SMN2 in mammals. Hum Mol Genet. 2018 Oct 1;27(19):3404-3416. doi: 10.1093/hmg/ddy251. PubMed PMID: 29982416; PubMed Central PMCID: PMC6140769.

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Van Alstyne M, Simon CM, Sardi SP, Shihabuddin LS, Mentis GZ, Pellizzoni L. Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy. Genes Dev. 2018 Aug 1;32(15-16):1045-1059. doi: 10.1101/gad.316059.118. Epub 2018 Jul 16. PubMed PMID: 30012555; PubMed Central PMCID: PMC6075148.

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Simon CM, Dai Y, Van Alstyne M, Koutsioumpa C, Pagiazitis JG, Chalif JI, Wang X, Rabinowitz JE, Henderson CE, Pellizzoni L, Mentis GZ. Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy. Cell Rep. 2017 Dec 26;21(13):3767-3780. doi: 10.1016/j.celrep.2017.12.003. PubMed PMID: 29281826; PubMed Central PMCID: PMC5747328.

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Van Alstyne M, Pellizzoni L. Advances in modeling and treating spinal muscular atrophy. Curr Opin Neurol. 2016 Oct;29(5):549-56. doi: 10.1097/WCO.0000000000000368. Review. PubMed PMID: 27472505; PubMed Central PMCID: PMC5074385.

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Simon CM, Janas AM, Lotti F, Tapia JC, Pellizzoni L, Mentis GZ. A Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency. Cell Rep. 2016 Aug 2;16(5):1416-1430. doi: 10.1016/j.celrep.2016.06.087. Epub 2016 Jul 21. PubMed PMID: 27452470; PubMed Central PMCID: PMC4972669.

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Zhao X, Feng Z, Ling KK, Mollin A, Sheedy J, Yeh S, Petruska J, Narasimhan J, Dakka A, Welch EM, Karp G, Chen KS, Metzger F, Ratni H, Lotti F, Tisdale S, Naryshkin NA, Pellizzoni L, Paushkin S, Ko CP, Weetall M. Pharmacokinetics, pharmacodynamics, and efficacy of a small-molecule SMN2 splicing modifier in mouse models of spinal muscular atrophy. Hum Mol Genet. 2016 May 15;25(10):1885-1899. doi: 10.1093/hmg/ddw062. Epub 2016 Feb 29. PubMed PMID: 26931466; PubMed Central PMCID: PMC5062580.

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Butchbach MER, Lumpkin CJ, Harris AW, Saieva L, Edwards JD, Workman E, Simard LR, Pellizzoni L, Burghes AHM. Protective effects of butyrate-based compounds on a mouse model for spinal muscular atrophy. Exp Neurol. 2016 May;279:13-26. doi: 10.1016/j.expneurol.2016.02.009. Epub 2016 Feb 15. PubMed PMID: 26892876; PubMed Central PMCID: PMC4834225.

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Tisdale S, Pellizzoni L. Disease mechanisms and therapeutic approaches in spinal muscular atrophy. J Neurosci. 2015 Jun 10;35(23):8691-700. doi: 10.1523/JNEUROSCI.0417-15.2015. Review. PubMed PMID: 26063904; PubMed Central PMCID: PMC4461682.

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Li DK, Tisdale S, Lotti F, Pellizzoni L. SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease. Semin Cell Dev Biol. 2014 Aug;32:22-9. doi: 10.1016/j.semcdb.2014.04.026. Epub 2014 Apr 24. Review. PubMed PMID: 24769255; PubMed Central PMCID: PMC4110182.

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Tisdale S, Lotti F, Saieva L, Van Meerbeke JP, Crawford TO, Sumner CJ, Mentis GZ, Pellizzoni L. SMN is essential for the biogenesis of U7 small nuclear ribonucleoprotein and 3'-end formation of histone mRNAs. Cell Rep. 2013 Dec 12;5(5):1187-95. doi: 10.1016/j.celrep.2013.11.012. PubMed PMID: 24332368; PubMed Central PMCID: PMC3885245.

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Van Meerbeke JP, Gibbs RM, Plasterer HL, Miao W, Feng Z, Lin MY, Rucki AA, Wee CD, Xia B, Sharma S, Jacques V, Li DK, Pellizzoni L, Rusche JR, Ko CP, Sumner CJ. The DcpS inhibitor RG3039 improves motor function in SMA mice. Hum Mol Genet. 2013 Oct 15;22(20):4074-83. doi: 10.1093/hmg/ddt257. Epub 2013 May 31. PubMed PMID: 23727836; PubMed Central PMCID: PMC3781637.

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Li DK, Tisdale S, Espinoza-Derout J, Saieva L, Lotti F, Pellizzoni L. A cell system for phenotypic screening of modifiers of SMN2 gene expression and function. PLoS One. 2013;8(8):e71965. doi: 10.1371/journal.pone.0071965. eCollection 2013. PubMed PMID: 23967270; PubMed Central PMCID: PMC3744461.

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Lotti F, Imlach WL, Saieva L, Beck ES, Hao le T, Li DK, Jiao W, Mentis GZ, Beattie CE, McCabe BD, Pellizzoni L. An SMN-dependent U12 splicing event essential for motor circuit function. Cell. 2012 Oct 12;151(2):440-54. doi: 10.1016/j.cell.2012.09.012. PubMed PMID: 23063131; PubMed Central PMCID: PMC3474596.

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Imlach WL, Beck ES, Choi BJ, Lotti F, Pellizzoni L, McCabe BD. SMN is required for sensory-motor circuit function in Drosophila. Cell. 2012 Oct 12;151(2):427-39. doi: 10.1016/j.cell.2012.09.011. PubMed PMID: 23063130; PubMed Central PMCID: PMC3475188.

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Ruggiu M, McGovern VL, Lotti F, Saieva L, Li DK, Kariya S, Monani UR, Burghes AH, Pellizzoni L. A role for SMN exon 7 splicing in the selective vulnerability of motor neurons in spinal muscular atrophy. Mol Cell Biol. 2012 Jan;32(1):126-38. doi: 10.1128/MCB.06077-11. Epub 2011 Oct 28. PubMed PMID: 22037760; PubMed Central PMCID: PMC3255708.

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Lutz CM, Kariya S, Patruni S, Osborne MA, Liu D, Henderson CE, Li DK, Pellizzoni L, Rojas J, Valenzuela DM, Murphy AJ, Winberg ML, Monani UR. Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. J Clin Invest. 2011 Aug;121(8):3029-41. doi: 10.1172/JCI57291. Epub 2011 Jul 25. PubMed PMID: 21785219; PubMed Central PMCID: PMC3148744.

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Butchbach ME, Singh J, Thorsteinsdóttir M, Saieva L, Slominski E, Thurmond J, Andrésson T, Zhang J, Edwards JD, Simard LR, Pellizzoni L, Jarecki J, Burghes AH, Gurney ME. Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy. Hum Mol Genet. 2010 Feb 1;19(3):454-67. doi: 10.1093/hmg/ddp510. Epub 2009 Nov 6. PubMed PMID: 19897588; PubMed Central PMCID: PMC2798721.

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Workman E, Saieva L, Carrel TL, Crawford TO, Liu D, Lutz C, Beattie CE, Pellizzoni L, Burghes AH. A SMN missense mutation complements SMN2 restoring snRNPs and rescuing SMA mice. Hum Mol Genet. 2009 Jun 15;18(12):2215-29. doi: 10.1093/hmg/ddp157. Epub 2009 Mar 27. PubMed PMID: 19329542; PubMed Central PMCID: PMC2685758.

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Walker MP, Rajendra TK, Saieva L, Fuentes JL, Pellizzoni L, Matera AG. SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain. Hum Mol Genet. 2008 Nov 1;17(21):3399-410. doi: 10.1093/hmg/ddn234. Epub 2008 Aug 8. PubMed PMID: 18689355; PubMed Central PMCID: PMC2566527.

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Gabanella F, Butchbach ME, Saieva L, Carissimi C, Burghes AH, Pellizzoni L. Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs. PLoS One. 2007 Sep 26;2(9):e921. doi: 10.1371/journal.pone.0000921. PubMed PMID: 17895963; PubMed Central PMCID: PMC1976558.

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Pellizzoni L. Chaperoning ribonucleoprotein biogenesis in health and disease. EMBO Rep. 2007 Apr;8(4):340-5. doi: 10.1038/sj.embor.7400941. Review. PubMed PMID: 17401408; PubMed Central PMCID: PMC1852756.

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Avila AM, Burnett BG, Taye AA, Gabanella F, Knight MA, Hartenstein P, Cizman Z, Di Prospero NA, Pellizzoni L, Fischbeck KH, Sumner CJ. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J Clin Invest. 2007 Mar;117(3):659-71. doi: 10.1172/JCI29562. Epub 2007 Feb 22. PubMed PMID: 17318264; PubMed Central PMCID: PMC1797603.

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Carissimi C, Saieva L, Gabanella F, Pellizzoni L. Gemin8 is required for the architecture and function of the survival motor neuron complex. J Biol Chem. 2006 Dec 1;281(48):37009-16. doi: 10.1074/jbc.M607505200. Epub 2006 Oct 5. PubMed PMID: 17023415.

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Carissimi C, Saieva L, Baccon J, Chiarella P, Maiolica A, Sawyer A, Rappsilber J, Pellizzoni L. Gemin8 is a novel component of the survival motor neuron complex and functions in small nuclear ribonucleoprotein assembly. J Biol Chem. 2006 Mar 24;281(12):8126-34. doi: 10.1074/jbc.M512243200. Epub 2006 Jan 24. PubMed PMID: 16434402.

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Gabanella F, Carissimi C, Usiello A, Pellizzoni L. The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. Hum Mol Genet. 2005 Dec 1;14(23):3629-42. doi: 10.1093/hmg/ddi390. Epub 2005 Oct 19. PubMed PMID: 16236758.

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Carissimi C, Baccon J, Straccia M, Chiarella P, Maiolica A, Sawyer A, Rappsilber J, Pellizzoni L. Unrip is a component of SMN complexes active in snRNP assembly. FEBS Lett. 2005 Apr 25;579(11):2348-54. doi: 10.1016/j.febslet.2005.03.034. PubMed PMID: 15848170.

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Yong J, Golembe TJ, Battle DJ, Pellizzoni L, Dreyfuss G. snRNAs contain specific SMN-binding domains that are essential for snRNP assembly. Mol Cell Biol. 2004 Apr;24(7):2747-56. doi: 10.1128/MCB.24.7.2747-2756.2004. PubMed PMID: 15024064; PubMed Central PMCID: PMC371136.

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Pellizzoni L, Yong J, Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science. 2002 Nov 29;298(5599):1775-9. doi: 10.1126/science.1074962. PubMed PMID: 12459587.

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Massenet S, Pellizzoni L, Paushkin S, Mattaj IW, Dreyfuss G. The SMN complex is associated with snRNPs throughout their cytoplasmic assembly pathway. Mol Cell Biol. 2002 Sep;22(18):6533-41. doi: 10.1128/MCB.22.18.6533-6541.2002. PubMed PMID: 12192051; PubMed Central PMCID: PMC135628.

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Baccon J, Pellizzoni L, Rappsilber J, Mann M, Dreyfuss G. Identification and characterization of Gemin7, a novel component of the survival of motor neuron complex. J Biol Chem. 2002 Aug 30;277(35):31957-62. doi: 10.1074/jbc.M203478200. Epub 2002 Jun 13. PubMed PMID: 12065586.

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Yong J, Pellizzoni L, Dreyfuss G. Sequence-specific interaction of U1 snRNA with the SMN complex. EMBO J. 2002 Mar 1;21(5):1188-96. doi: 10.1093/emboj/21.5.1188. PubMed PMID: 11867547; PubMed Central PMCID: PMC125911.

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Pellizzoni L, Baccon J, Rappsilber J, Mann M, Dreyfuss G. Purification of native survival of motor neurons complexes and identification of Gemin6 as a novel component. J Biol Chem. 2002 Mar 1;277(9):7540-5. doi: 10.1074/jbc.M110141200. Epub 2001 Dec 17. PubMed PMID: 11748230.