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Research Publications & Milestones Achieved by the Center

Listing of Publications

The following is a list of publications resulting for the work of the University of Massachusetts Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD:


Identification of the hyaluronic acid pathway as a therapeutic trarget for facioscapulohumeral muscular dystrophy 
DeSimone AM, Leszyk J, Wagner K, Emerson CP Jr. Sci Adv. 2019 Dec 11;5(12):eaaw7099.  DOI: 10.1126/sciadv.aaw7099.


Facioscapulohumeral Muscular Dystrophy.
DeSimone AM, Pakula A, Lek A, Emerson CP Jr. Compr Physiol. 2017 sep 12;7(4): 1229-1279.  doi: 10.1002/cphy.c160039. PMID: 28915324

Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy (FSHD).
Ansseau E, Vanderplanck C, Wauters A, Harper SQ, Coppée F, Belayew A.
Genes (Basel). 2017 Mar 3;8(3). pii: E93. doi: 10.3390/genes8030093. PMID: 28273791

Pre-clinical safety and off-target studies to support translation of AAV-mediated RNAi therapy for FSHD
Wallace LM, Saad NY, Pyne NK, Fowler AM, Eidahl JO, Domire JS, Griffin DA, Herman AC, Sahenk Z, Rodino-Klapac LR, Harper SQ.  Mol. Therapy 2018 Mar 16; 8:121-130. Epub ahead of print, 2017 Dec. 05. (PubMed - in process)


In vivo selection yields AAV-B1 capsid for central nervous system and muscle gene therapy.
Choudhury SR, Fitzpatrick Z, Harris AF, Maitland SA, Ferreira JS, Zhang Y, Ma S, Sharma RB, Gray-Edwards HL, Johnson JA, Jonson AK, Alonso LC, Punzo C, Wagner KR, Maguire CA, Kotin RM, Martin DR, Sena-Esteves M.  Molecular Therapy: the journal of the American Society for Gene Therapy.  2016 Aug.;24(7):1247-57. PubMed PMID:  27117222; PubMed PMCID: PMC5088762

Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4.
Eidahl JO, Giesige CR, Domire JS, Wallace LM, Fowler AM, Guckes SM, Garwick-Coppens SE, Labhart P, Harper SQ.Hum Mol Genet. 2016 Oct 15;25(20):4577-4589. doi: 10.1093/hmg/ddw287. PMID: 28173143

Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation.
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. . PLoS One. 2016 Jan 27;11(1):e0146893. doi: 10.1371/journal.pone.0146893. eCollection 2016. PMID: 26816005

Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics.
Chen JC, King OD, Zhang Y, Clayton NP, Spencer C, Wentworth BM, Emerson CP Jr, Wagner KR.  Mol Ther. 2016 Aug;24(8):1405-11. doi: 10.1038/mt.2016.111. Epub 2016 Jun 3.  PMID: 27378237

In vivo selection yields AAV-B1 capsid for central nervous system and muscle gene therapy.
Choudhury SR, Fitzpatrick Z, Harris AF, Maitland SA, Ferreira JS, Zhang Y, Ma S, Sharma RB, Gray-Edwards HL, Johnson JA, Johnson AK, Alonso LC, Punzo C, Wagner KR, Maguire CA, Kotin RM, Martin DR, Sena-Esteves M.    Molecular therapy: the journal of the American Society for Gene Therapy. 2016 August;24(7): 1247-57.  PubMed PMID: 27117222; PubMed PMCID: PMC5088762 

Clinical practice considerations in facioscapulohumeral muscular dystrophy Sydney, Australia 21 Sep 2015
Tawil R, Mah JK, Baker S, Wagner KR, Ryan MM; Sydney Workshop Participants.  Neuromuscl Disor. 2016 Jul;26(7):462-71.  doi:  1.1016.03.007.  Epub 2016 Apr 25. No abstract available.  PMID: 27185458


Individual epigenetic status of the pathogenic D4Z4 macro-satellite correlates with disease in facioscapulohumeral muscular dystrophy.
Jones TI, King OD, Himeda CL, Homma S, Chen JC, Beermann ML, Yan C, Emerson CP Jr, Miller JB, Wagner KR, Jones PL. Clin Epigenetics. 2015 Mar 29;7:37. doi: 10.1186/s13148-015-0072-6. eCollection 2015. PMID: 25904990

Emerging preclinical animal models for FSHD.
Lek A, Rahimov F, Jones PL, Kunkel LM.
Trends Mol Med. 2015 May;21(5):295-306. doi: 10.1016/j.molmed.2015.02.011. Epub 2015 Mar 20. Review. PMID: 25801126

Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism.
Moyer AL, Wagner KR.
J Neuromuscul Dis. 2015;2(4):371-385.  Epub 2015 sep 21. PMID:  26634192, PMC4504833

Whole body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy.
Leung DG, Carrino JA, Wagner KR, Jacobs MA.  Muscle Nerve. 2015 Oct;52(4):512-20.  doi:10.1002/musc.24569.  Epub 2015 Mar 31.  PMID:  2641525 PMCID:  PMC4504833

Aberrant splicing in trans-genes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences. 
Ansseau E, Domire JS, Wallace LM, Eidahl JO, Guckes SM, Giesige CR, Pyne NK, Belayew A, Harper SQ.  PLoS One. 2015 Mar 5;10(3):e0118813.  doi:  10.1371/journal.pone.0118813.  eCollection 2015.  PMID: 25742305 


Telomere position effect: regulation of gene expression with progressive telomere shortening over long distances
Robin JD,Ludlow AT, Batten K, Magdinier F, Stadler G, Wagner KR, Shaw JW, Wright WE.  Genes Dev. 2014, 28(22): 2464-76.  PMID:  25403178


Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2..&bnsp;
Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB.  Neuomuscul Disord.  2013 Dec;23(12):975-80.  doi: 10.1016/j/nmd.2013.08.009.  Epub 2013 Aug 31. PMID:  24128691 PMCID: PMC3851942

Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story?
Stadler G, King OD, Robin JD, Shay JW, Wright WE.  Rare Dis. 2013 Aug 14;1:e26142.  doi: 10.4161/rdis.26142.  eCollection 2013 PMCID: PMC3927483 PMID:  25003004

The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy.
Rahimov F, Junkel LM.  J Cell Biol. 2013 May 13;201(4):499-510.  doi: 10.1083/jcb.201212142.PMCID:  PMC3653356 PMID:  23671309 

Reevaluating measures of disease progression in facioscapulohumeral muscular dystrophy.
Stratland JM, McDermott MP, Heatwole C, Martens WB, Pandya S, van der Kool EL, Kissel JT, Wagner KR, Tawil R.  Neuromuscul Disord. 2013 Apr;23(4):306-12.  doi:  10.1016/j.nmd.2013.01.008.  Epub 2013 Feb 11.  PMID:  23406877

Expression of DUX4 in zebra fish development recapitulates facioscapulohumeral muscular dystrophy.
Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM.
Hum Mol Genet. 2013 Feb 1;22(3):568-77. doi: 10.1093/hmg/dds467. Epub 2012 Oct 29. PMID: 23108159