Research Publications & Milestones Achieved by the Center
Listing of Publications
The following is a list of publications resulting from the work of the UMass Chan Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD:
2023
A human immune/muscle xenograft model of FSHD muscle pathology. Daman K, Yan J, Burzenski LM, Kady J, Shultz LD, Brehm MA, Emerson CP. bioRxiv [Preprint]. 2023.11.17.567590; doi: 10.1101/2023.11.17.567590
Addressing the dNTP bottleneck restricting prime editing activity. Ponnienselvan K, Liu P, Nyalile T, Oikemus S, Joynt AT, Kelly K, Guo D, Chen Z, Lee JM, Schiffer CA, Emerson CP, Lawson ND, Watts JK, Sontheimer EJ, Luban J, Wolfe SA. bioRxiv [Preprint]. 2023 Oct 29:2023.10.21.563443. doi: 10.1101/2023.10.21.563443. PMID: 37904991; PMCID: PMC10614944.
Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism. Cohen J, Huang S, Koczwara K, Woods KT, Ho V, Woodman K, Arbiser J, Daman K, Lek M, Emerson CP, DeSimone A. Cell Death Dis. 2023 Nov 16;14(11):749. doi: 10.1038/s41419-023-06257-2. PMID: 37973788; PMCID: PMC10654915.
A Targeted Approach for Evaluating DUX4-Regulated Proteins as Potential Serum Biomarkers for Facioscapulohumeral Muscular Dystrophy Using Immunoassay Proteomics. Campbell AE, Arjomand J, King OD, Tawil R, Jagannathan S. J Neuromuscul Dis. 2023;10(6):1031-1040. doi: 10.3233/JND-221636. PMID: 37899061; PMCID: PMC10657687.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy. Lemmers RJLF, Butterfield R, van der Vliet PJ, de Bleecker JL, van der Pol L, Dunn DM, Erasmus CE, D'Hooghe M, Verhoeven K, Balog J, Bigot A, van Engelen B, Statland J, Bugiardini E, van der Stoep N, Evangelista T, Marini-Bettolo C, van den Bergh P, Tawil R, Voermans NC, Vissing J, Weiss RB, van der Maarel SM. Brain. 2023 Sep 13:awad312. doi: 10.1093/brain/awad312. Epub ahead of print. PMID: 37703328.
Deciphering D4Z4 CpG methylation gradients in fascioscapulohumeral muscular dystrophy using nanopore sequencing. Butterfield RJ, Dunn DM, Duval B, Moldt S, Weiss RB. Genome Res. 2023 Sep; 33(9):1439-1454. doi: 10.1101/gr.277871.123. Epub 2023 Oct 5. PMID: 37798116; PMCID: PMC10620044.
Post-Translational Modifications of the DUX4 Protein Impact Toxic Function in FSHD Cell Models. Knox RN, Eidahl JO, Wallace LM, Choudury SG, Rashnonejad A, Daman K, Guggenbiller MJ, Saad NY, Hoover ME, Zhang L, Branson OE, Emerson CP, Freitas MA, Harper SQ.. Ann Neurol. Aug;94(2):398-413. doi: 10.1002/ana.26668; PMID: 37186119. (PMCID: in process)
2022
DUX4 expression activates JNK and p38 MAP kinases in myoblasts. Brennan CM, Hill AS, St. Andre M, Li X, Madeti V, Breitkopf S, Garren S, Xue L, Gilbert t, Hadjipanayis A, Monetti M, Emerson CP Jr, Moccia R, Owens J, Christoforou N. Dis Model Mech. 2022 Oct 5:dmm.049516. doi: 10.1242/dmm.049516. Epub ahead of print. PMID: 36196640.
Generation of iMyoblasts from Human Induced Pluripotent Stem Cells. Guo D, Daman K, Fernandes Durso D, Yan J, Emerson CP Jr. Bio Protoc. 2022 Sep 5;12(17):e4500. doi: 10.21769/BioProtoc.4500. PMID: 36213105; PMCID: PMC9501722.
Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. Ghasemi M, Emerson CP Jr, Hayward LJ. Cells. 2022 Feb 16;11(4):687. doi: 10.3390/cells11040687. PMID: 35203336; PMCID: PMC8870318.
iMyoblasts for ex vivo and in vivo investigations of human myogenesis and disease modeling. Guo D, Daman K, Chen JJ, Shi MJ, Yan J, Matijasevic Z, Rickard AM, Bennett MH, Kiselyov A, Zhou H, Bang, AG, Wagner KR, Maehr R, King, OD, Hayward LJ, Emerson CP Jr. Elife. 2022 Jan 25;11:e70341. doi: 10.7554/eLife.70341. PMID: 35076017; PMCID: PMC8789283.
Meeting report: the 2021 FSHD International Research Congress. Jagannathan S, de Greef JC, Hayward LJ, Yokomori K, Gabellini D, Mul K, Sacconi S, Arjomand J,Kinoshita J, Harper SQ. Skelet Muscle. 2022 Jan 17;12(1):1. doi: 10.1186/s13395-022-00287-8. PMID: 35039091; PMCID: PMC8762812.
2021
p53 convergently activates Dux/DUX4 in embryonic stem cells and in facioscapulohumeral muscular dystrophy cell models. Grow EJ, Weaver BD, Smith CM, Guo J, Stein P, Shadle SC, Hendrickson PG, Johnson NE, Butterfield RJ, Menafra R, Kloet SL, van der Maarel SM, Williams CJ, Cairns BR. Nat Genet. 2021 Aug;53(8):1207-1220. doi: 10.1038/s41588-021-00893-0. Epub 2021 Jul 15. PMID: 34267371; PMCID: PMC8513633.
p38 MARKs – roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets. Brennan CM, Emerson CP Jr, Owens J, Christoforou N. JCI Insight. 2021 Jun 22;6(12):e149915. doi: 10.1172/jci.insight.149915. PMID: 34156029; PMCID: PMC8262482.
Docosanoic acid conjugation to siRNA enables functional and safe delivery to skeletal and cardiac muscles. Biscans A, Caiazzi J, McHugh N, Hariharan V, Muhuri M, Khvorova A. Mol Ther. 2021 Apr 7;29(4):1382-1394. doi: 10.1016/j.ymthe.2020.12.023. Epub 2020 Dec 19. PMID: 33348054; PMCID: PMC8058398.
Therapeutic Approaches in Facioscapulohumeral Muscular Dystrophy. Cohen J, DeSimone A, Lek M, Lek A. Trends Mol Med. 2021 Feb;27(2):123-137. doi: 10.1016/j.molmed.2020.09.008. Epub 2020 Oct 19. PMID: 33092966; PMCID: PMC8048701.
2020
Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes. Rashnonejad A, Amini-Chermahini G, Taylor NK, Wein N, Harper SQ. Mol Ther Nucleic Acids. 2020 Dec 10;23:476-486. doi: 10.1016/j.omtn.2020.12.004. PMID: 33510937; PMCID: PMC7807095.
Cellular and animal models for facioscapulohumeral muscular dystrophy. DeSimone AM, Cohen J, Lek M, Lek A. Dis Model Mech. 2020 Oct 28;13(10):dmm046904. doi: 10.1242/dmm.046904. PMID: 33174531; PMCID: PMC7648604.
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Lek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, Lek M, Kunkel LM. Sci Transl Med. 2020 Mar 25;12(536):eaay0271. doi: 10.1126/scitranslmed.aay0271. PMID: 32213627; PMCID: PMC7304480.
2019
Identification of the hyaluronic acid pathway as a therapeutic target 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. PMID: 31844661; PMCID: PMC6905861.
Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth Type 2D mouse models. Morelli KH, Griffin LB, Pyne NK, Wallace LM, Fowler AM, Oprescu SN, Takase R, Wei N, Meyer-Schuman R, Mellancheruvu 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. J Clin Invest. 2019 Dec 2;129(12):5568-5583. doi: 10.1172/JCI130600. PMID: 31557132; PMCID: PMC6877339.
RNAscope in situ hybridization-based method for detecting DUX4 expression in vitro. Amini-Chermahini G, Rashnonejad A, Harper SQ. RNA. 2019 Sep;25(9):1211-1217. doi: 10.1261/rna.070177.118. Epub 2019 Jun 17. PMID: 31209064; PMCID: PMC6800509.
Precise therapeutic gene correction by a simple nuclease-induced double-stranded break. Iyer S, Suresh S, Guo D, Daman K, Chen JCJ, Liu P, Zieger M, Luk K, Roscoe BP, Mueller C, King OD, Emerson CP Jr, Wolfe SA. Nature. 2019 Apr;568(7753):561-565. doi: 10.1038/s41586-019-1076-8. Epub 2019 Apr 3. PMID: 30944467; PMCID: PMC6483862.
Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VA, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L. Hum Mol Genet. 2019 Jan 15;28(2):320-331. doi: 10.1093/hmg/ddy348. PMID: 30307508; PMCID: PMC6489409.
2018
AAV mediated follistatin gene therapy improves functional outcomes in the TIC-DUX4 mouse model of FSHD. 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. JCI insight. 2018 November 15;3(22). PMID: 30429376; PMCID: PMC6302942.
2017
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):93. doi: 10.3390/genes8030093. PMID: 28273791; PMCID: PMC5368697.
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 Ther Methods Clin Dev. 2017 Dec 24;8:121-130. doi: 10.1016/j.omtm.2017.12.005. PMID: 29387734; PMCID: PMC5787672.
2016
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; PMCID: PMC5409219.
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. PMID: 26816005; PMCID: PMC4729438.
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; PMCID: PMC5023379.
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. Mol Ther. 2016 Aug;24(7):1247-57. doi: 10.1038/mt.2016.84. Epub 2016 Apr 27. PMID: 27117222; 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. Neuromuscul Disord. 2016 Jul;26(7):462-71. doi: 10.1016/j.nmd.2016.03.007. Epub 2016 Apr 25. PMID: 27185458.
2015
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(1):37. doi: 10.1186/s13148-015-0072-6. PMID: 25904990; PMCID: PMC4405830.
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. PMID: 25801126; PMCID: PMC4424175.
Mammalian Mss51 is a skeletal muscle-specific gene modulating cellular metabolism. Moyer AL, Wagner KR. J Neuromuscul Dis. 2015;2(4):371-385. doi: 10.3233/JND-150119. Epub 2015 Sep 21. PMID: 26634192; PMCID: PMC4664537.
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/mus.24569. Epub 2015 Mar 31. PMID: 25641525; 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. PMID: 25742305; PMCID: PMC4351184.
2014
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing. Jones TI, Yan C, Sapp PC, McKenna-Yasek D, Kang PB, Quinn C, Salameh JS, King OD, Jones PL. Clin Epigenetics. 2014 Oct 29;6(1):23. doi: 10.1186/1868-7083-6-23. PMID: 25400706; PMCID: PMC4232706.
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 Nov 15;28(22):2464-76. doi: 10.1101/gad.251041.114. PMID: 25403178; PMCID: PMC4233240.
2013
Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Neuromuscul 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. PMID: 25003004; PMCID: PMC3927483.
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. PMID: 23671309; PMCID: PMC3653356.
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; PMCID: PMC3602208.
Expression of DUX4 in zebrafish 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; PMCID: PMC3606007.