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Harper SQ, Hauser MA, DelloRusso C, Duan D, Crawford RW, Phelps SF, Harper HA, Robinson AS, Engelhardt JF, Brooks SV, Chamberlain JS. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat Med. 2002 Mar;8(3):253-61. doi: 10.1038/nm0302-253. PubMed PMID: 11875496.
Harper SQ, Crawford RW, DelloRusso C, Chamberlain JS. Spectrin-like repeats from dystrophin and alpha-actinin-2 are not functionally interchangeable. Hum Mol Genet. 2002 Aug 1;11(16):1807-15. doi: 10.1093/hmg/11.16.1807. PubMed PMID: 12140183.
Scott JM, Li S, Harper SQ, Welikson R, Bourque D, DelloRusso C, Hauschka SD, Chamberlain JS. Viral vectors for gene transfer of micro-, mini-, or full-length dystrophin. Neuromuscul Disord. 2002 Oct;12 Suppl 1:S23-9. doi: 10.1016/s0960-8966(02)00078-0. Review. PubMed PMID: 12206791.
Yue Y, Li Z, Harper SQ, Davisson RL, Chamberlain JS, Duan D. Microdystrophin gene therapy of cardiomyopathy restores dystrophin-glycoprotein complex and improves sarcolemma integrity in the mdx mouse heart. Circulation. 2003 Sep 30;108(13):1626-32. doi: 10.1161/01.CIR.0000089371.11664.27. Epub 2003 Sep 2. PubMed PMID: 12952841; PubMed Central PMCID: PMC2581719.
Xia H, Mao Q, Eliason SL, Harper SQ, Martins IH, Orr HT, Paulson HL, Yang L, Kotin RM, Davidson BL. RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia. Nat Med. 2004 Aug;10(8):816-20. doi: 10.1038/nm1076. Epub 2004 Jul 4. PubMed PMID: 15235598.
Blankinship MJ, Gregorevic P, Allen JM, Harper SQ, Harper H, Halbert CL, Miller AD, Chamberlain JS. Efficient transduction of skeletal muscle using vectors based on adeno-associated virus serotype 6. Mol Ther. 2004 Oct;10(4):671-8. doi: 10.1016/j.ymthe.2004.07.016. PubMed PMID: 15451451.
Harper SQ, Davidson BL. Plasmid-based RNA interference: construction of small-hairpin RNA expression vectors. Methods Mol Biol. 2005;309:219-35. doi: 10.1385/1-59259-935-4:219. PubMed PMID: 15990403.
Davidson BL, Harper SQ. Viral delivery of recombinant short hairpin RNAs. Methods Enzymol. 2005;392:145-73. doi: 10.1016/S0076-6879(04)92009-5. PubMed PMID: 15644180.
Liu M, Yue Y, Harper SQ, Grange RW, Chamberlain JS, Duan D. Adeno-associated virus-mediated microdystrophin expression protects young mdx muscle from contraction-induced injury. Mol Ther. 2005 Feb;11(2):245-56. doi: 10.1016/j.ymthe.2004.09.013. PubMed PMID: 15668136; PubMed Central PMCID: PMC2581717.
Harper SQ, Staber PD, He X, Eliason SL, Martins IH, Mao Q, Yang L, Kotin RM, Paulson HL, Davidson BL. RNA interference improves motor and neuropathological abnormalities in a Huntington's disease mouse model. Proc Natl Acad Sci U S A. 2005 Apr 19;102(16):5820-5. doi: 10.1073/pnas.0501507102. Epub 2005 Apr 5. PubMed PMID: 15811941; PubMed Central PMCID: PMC556303.
Miller VM, Nelson RF, Gouvion CM, Williams A, Rodriguez-Lebron E, Harper SQ, Davidson BL, Rebagliati MR, Paulson HL. CHIP suppresses polyglutamine aggregation and toxicity in vitro and in vivo. J Neurosci. 2005 Oct 5;25(40):9152-61. doi: 10.1523/JNEUROSCI.3001-05.2005. PubMed PMID: 16207874; PubMed Central PMCID: PMC6725774.
Harper SQ, Staber PD, Beck CR, Fineberg SK, Stein C, Ochoa D, Davidson BL. Optimization of feline immunodeficiency virus vectors for RNA interference. J Virol. 2006 Oct;80(19):9371-80. doi: 10.1128/JVI.00958-06. PubMed PMID: 16973543; PubMed Central PMCID: PMC1617215.
Allaire PD, Ritter B, Thomas S, Burman JL, Denisov AY, Legendre-Guillemin V, Harper SQ, Davidson BL, Gehring K, McPherson PS. Connecdenn, a novel DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis. J Neurosci. 2006 Dec 20;26(51):13202-12. doi: 10.1523/JNEUROSCI.4608-06.2006. PubMed PMID: 17182770; PubMed Central PMCID: PMC6674997.
Harper SQ, Gonzalez-Alegre P. Lentivirus-mediated RNA interference in mammalian neurons. Methods Mol Biol. 2008;442:95-112. doi: 10.1007/978-1-59745-191-8_8. PubMed PMID: 18369781.
McBride JL, Boudreau RL, Harper SQ, Staber PD, Monteys AM, Martins I, Gilmore BL, Burstein H, Peluso RW, Polisky B, Carter BJ, Davidson BL. Artificial miRNAs mitigate shRNA-mediated toxicity in the brain: implications for the therapeutic development of RNAi. Proc Natl Acad Sci U S A. 2008 Apr 15;105(15):5868-73. doi: 10.1073/pnas.0801775105. Epub 2008 Apr 8. PubMed PMID: 18398004; PubMed Central PMCID: PMC2311380.
Packer AN, Xing Y, Harper SQ, Jones L, Davidson BL. The bifunctional microRNA miR-9/miR-9* regulates REST and CoREST and is downregulated in Huntington's disease. J Neurosci. 2008 Dec 31;28(53):14341-6. doi: 10.1523/JNEUROSCI.2390-08.2008. PubMed PMID: 19118166; PubMed Central PMCID: PMC3124002.
Harper SQ. Progress and challenges in RNA interference therapy for Huntington disease. Arch Neurol. 2009 Aug;66(8):933-8. doi: 10.1001/archneurol.2009.180. Review. PubMed PMID: 19667213.
Jin Z, Wallace L, Harper SQ, Yang J. PP2A:B56{epsilon}, a substrate of caspase-3, regulates p53-dependent and p53-independent apoptosis during development. J Biol Chem. 2010 Nov 5;285(45):34493-502. doi: 10.1074/jbc.M110.169581. Epub 2010 Aug 31. PubMed PMID: 20807766; PubMed Central PMCID: PMC2966064.
Wallace LM, Garwick SE, Mei W, Belayew A, Coppee F, Ladner KJ, Guttridge D, Yang J, Harper SQ. DUX4, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53-dependent myopathy in vivo. Ann Neurol. 2011 Mar;69(3):540-52. doi: 10.1002/ana.22275. Epub 2010 Dec 8. PubMed PMID: 21446026; PubMed Central PMCID: PMC4098764.
Wallace LM, Garwick-Coppens SE, Tupler R, Harper SQ. RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1). Mol Ther. 2011 Nov;19(11):2048-54. doi: 10.1038/mt.2011.118. Epub 2011 Jul 5. PubMed PMID: 21730972; PubMed Central PMCID: PMC3222519.
Garwick-Coppens SE, Herman A, Harper SQ. Construction of permanently inducible miRNA-based expression vectors using site-specific recombinases. BMC Biotechnol. 2011 Nov 16;11:107. doi: 10.1186/1472-6750-11-107. PubMed PMID: 22087765; PubMed Central PMCID: PMC3252340.
Pandey SN, Cabotage J, Shi R, Dixit M, Sutherland M, Liu J, Muger S, Harper SQ, Nagaraju K, Chen YW. Conditional over-expression of PITX1 causes skeletal muscle dystrophy in mice. Biol Open. 2012 Jul;1(7):629-639. doi: 10.1242/bio.20121305. Epub 2012 May 25. PubMed PMID: 23125914; PubMed Central PMCID: PMC3486706.
Wallace LM, Liu J, Domire JS, Garwick-Coppens SE, Guckes SM, Mendell JR, Flanigan KM, Harper SQ. RNA interference inhibits DUX4-induced muscle toxicity in vivo: implications for a targeted FSHD therapy. Mol Ther. 2012 Jul;20(7):1417-23. doi: 10.1038/mt.2012.68. Epub 2012 Apr 17. PubMed PMID: 22508491; PubMed Central PMCID: PMC3392971.
Liu J, Harper SQ. RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies. Curr Gene Ther. 2012 Aug;12(4):307-14. doi: 10.2174/156652312802083585. Review. PubMed PMID: 22856606; PubMed Central PMCID: PMC4120526.
Harper SQ. Molecular dissection of dystrophin identifies the docking site for nNOS. Proc Natl Acad Sci U S A. 2013 Jan 8;110(2):387-8. doi: 10.1073/pnas.1220256110. Epub 2012 Dec 31. PubMed PMID: 23277550; PubMed Central PMCID: PMC3545786.
Wallace LM, Moreo A, Clark KR, Harper SQ. Dose-dependent Toxicity of Humanized Renilla reniformis GFP (hrGFP) Limits Its Utility as a Reporter Gene in Mouse Muscle. Mol Ther Nucleic Acids. 2013 Apr 16;2(4):e86. doi: 10.1038/mtna.2013.16. PubMed PMID: 23591809; PubMed Central PMCID: PMC3650248.
Liu J, Wallace LM, Garwick-Coppens SE, Sloboda DD, Davis CS, Hakim CH, Hauser MA, Brooks SV, Mendell JR, Harper SQ. RNAi-mediated Gene Silencing of Mutant Myotilin Improves Myopathy in LGMD1A Mice. Mol Ther Nucleic Acids. 2014 Apr 29;3(4):e160. doi: 10.1038/mtna.2014.13. PubMed PMID: 24781192; PubMed Central PMCID: PMC4013433.
O'Reilly M, Federoff HJ, Fong Y, Kohn DB, Patterson AP, Ahmed N, Asokan A, Boye SE, Crystal RG, De Oliveira S, Gargiulo L, Harper SQ, Ikeda Y, Jambou R, Montgomery M, Prograis L, Rosenthal E, Sterman DH, Vandenberghe LH, Zoloth L, Abedi M, Adair J, Adusumilli PS, Goins WF, Gray J, Monahan P, Popplewell L, Sena-Esteves M, Tannous B, Weber T, Wierda W, Gopal-Srivastava R, McDonald CL, Rosenblum D, Corrigan-Curay J. Gene therapy: charting a future course--summary of a National Institutes of Health Workshop, April 12, 2013. Hum Gene Ther. 2014 Jun;25(6):488-97. doi: 10.1089/hum.2014.045. Review. PubMed PMID: 24773122; PubMed Central PMCID: PMC4064731.
Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ. Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. PLoS One. 2015;10(3):e0118813. doi: 10.1371/journal.pone.0118813. eCollection 2015. PubMed PMID: 25742305; PubMed Central PMCID: PMC4351184.
Ansseau E, Eidahl JO, Lancelot C, Tassin A, Matteotti C, Yip C, Liu J, Leroy B, Hubeau C, Gerbaux C, Cloet S, Wauters A, Zorbo S, Meyer P, Pirson I, Laoudj-Chenivesse D, Wattiez R, Harper SQ, Belayew A, Coppée F. Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation. PLoS One. 2016;11(1):e0146893. doi: 10.1371/journal.pone.0146893. eCollection 2016. PubMed PMID: 26816005; PubMed Central PMCID: PMC4729438.
Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ. Pre-clinical Safety and Off-Target Studies to Support Translation of AAV-Mediated RNAi Therapy for FSHD. Mol Ther Methods Clin Dev. 2018 Mar 16;8:121-130. doi: 10.1016/j.omtm.2017.12.005. eCollection 2018 Mar 16. PubMed PMID: 29387734; PubMed Central PMCID: PMC5787672.
Giesige CR, Wallace LM, Heller KN, Eidahl JO, Saad NY, Fowler AM, Pyne NK, Al-Kharsan M, Rashnonejad A, Chermahini GA, Domire JS, Mukweyi D, Garwick-Coppens SE, Guckes SM, McLaughlin KJ, Meyer K, Rodino-Klapac LR, Harper SQ. AAV-mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. JCI Insight. 2018 Nov 15;3(22). doi: 10.1172/jci.insight.123538. PubMed PMID: 30429376; PubMed Central PMCID: PMC6302942.
Amini Chermahini G, Rashnonejad A, Harper SQ. RNAscope in situ hybridization-based method for detecting DUX4 RNA expression in vitro. RNA. 2019 Sep;25(9):1211-1217. doi: 10.1261/rna.070177.118. Epub 2019 Jun 17. PubMed PMID: 31209064; PubMed Central PMCID: PMC6800509.
Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellacheruvu D, Kitzman JO, Kocen SG, Hines TJ, Spaulding EL, Lupski JR, Nesvizhskii A, Mancias P, Butler IJ, Yang XL, Hou YM, Antonellis A, Harper SQ, Burgess RW. Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models. J Clin Invest. 2019 Dec 2;129(12):5568-5583. doi: 10.1172/JCI130600. PubMed PMID: 31557132; PubMed Central PMCID: PMC6877339.
Morelli KH, Hatton CL, Harper SQ, Burgess RW. Gene therapies for axonal neuropathies: Available strategies, successes to date, and what to target next. Brain Res. 2020 Apr 1;1732:146683. doi: 10.1016/j.brainres.2020.146683. Epub 2020 Jan 27. Review. PubMed PMID: 32001243; PubMed Central PMCID: PMC7060803.
Kyba M, Bloch RJ, Dumonceaux J, Harper SQ, van der Maarel SM, Sverdrup FM, Wagner KR, van Engelen B, Chen YW. Meeting report: the 2020 FSHD International Research Congress. Skelet Muscle. 2020 Dec 8;10(1):36. doi: 10.1186/s13395-020-00253-2. PubMed PMID: 33292505; PubMed Central PMCID: PMC7721607.
Bal NC, Gupta SC, Pant M, Sopariwala DH, Gonzalez-Escobedo G, Turner J, Gunn JS, Pierson CR, Harper SQ, Rafael-Fortney JA, Periasamy M. Is Upregulation of Sarcolipin Beneficial or Detrimental to Muscle Function?. Front Physiol. 2021;12:633058. doi: 10.3389/fphys.2021.633058. eCollection 2021. PubMed PMID: 33732165; PubMed Central PMCID: PMC7956958.
Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Mol Ther Nucleic Acids. 2021 Mar 5;23:476-486. doi: 10.1016/j.omtn.2020.12.004. eCollection 2021 Mar 5. PubMed PMID: 33510937; PubMed Central PMCID: PMC7807095.
Hines TJ, Lutz C, Murray SA, Burgess RW. An Integrated Approach to Studying Rare Neuromuscular Diseases Using Animal and Human Cell-Based Models. Front Cell Dev Biol. 2021;9:801819. doi: 10.3389/fcell.2021.801819. eCollection 2021. Review. PubMed PMID: 35047510; PubMed Central PMCID: PMC8762301.
Quintero J, Saad NY, Pagnoni SM, Jacquelin DK, Gatica LV, Harper SQ, Rosa AL. The DUX4 protein is a co-repressor of the progesterone and glucocorticoid nuclear receptors. FEBS Lett. 2022 Oct;596(20):2644-2658. doi: 10.1002/1873-3468.14416. Epub 2022 Jun 15. PubMed PMID: 35662006.
Knox RN, Eidahl JO, Wallace LM, Choudury SG, Rashnonejad A, Daman K, Guggenbiller MJ, Saad NY, Hoover ME, Zhang L, Branson OE, Emerson CP Jr, Freitas MA, Harper SQ. Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models. Ann Neurol. 2023 Aug;94(2):398-413. doi: 10.1002/ana.26668. Epub 2023 May 19. PubMed PMID: 37186119; PubMed Central PMCID: PMC10777487.
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