{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T12:44:30Z","timestamp":1789908270737,"version":"4.0.1"},"reference-count":66,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2018,12,7]],"date-time":"2018-12-07T00:00:00Z","timestamp":1544140800000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["SP\/08\/004"],"award-info":[{"award-number":["SP\/08\/004"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000618","name":"Foulkes Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000618","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009824","name":"FSH Society","doi-asserted-by":"publisher","award":["FSHS-82016-03"],"award-info":[{"award-number":["FSHS-82016-03"]}],"id":[{"id":"10.13039\/100009824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009824","name":"FSH Society","doi-asserted-by":"publisher","award":["FSHS-82017-05"],"award-info":[{"award-number":["FSHS-82017-05"]}],"id":[{"id":"10.13039\/100009824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009824","name":"FSH Society","doi-asserted-by":"publisher","award":["FSHS-82013-06"],"award-info":[{"award-number":["FSHS-82013-06"]}],"id":[{"id":"10.13039\/100009824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100011724","name":"Muscular Dystrophy UK","doi-asserted-by":"publisher","award":["RA3\/3052\/1"],"award-info":[{"award-number":["RA3\/3052\/1"]}],"id":[{"id":"10.13039\/100011724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010269","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["203949\/Z\/16\/Z"],"award-info":[{"award-number":["203949\/Z\/16\/Z"]}],"id":[{"id":"10.13039\/100010269","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002102","name":"King's Health Partners","doi-asserted-by":"publisher","award":["R151006"],"award-info":[{"award-number":["R151006"]}],"id":[{"id":"10.13039\/501100002102","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000265","name":"Medical Research Council","doi-asserted-by":"publisher","award":["MR\/P023215\/1"],"award-info":[{"award-number":["MR\/P023215\/1"]}],"id":[{"id":"10.13039\/501100000265","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["PG\/13\/1930059"],"award-info":[{"award-number":["PG\/13\/1930059"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000266","name":"Engineering and Physical Sciences Research Council","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000266","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["17865"],"award-info":[{"award-number":["17865"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]},{"name":"BIODESIGN","award":["262948"],"award-info":[{"award-number":["262948"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is a prevalent, incurable myopathy, linked to epigenetic derepression of D4Z4 repeats on chromosome 4q, leading to ectopic DUX4 expression. FSHD patient myoblasts have defective myogenic differentiation, forming smaller myotubes with reduced myosin content. However, molecular mechanisms driving such disrupted myogenesis in FSHD are poorly understood. We performed high-throughput morphological analysis describing FSHD and control myogenesis, revealing altered myogenic differentiation results in hypotrophic myotubes. Employing polynomial models and an empirical Bayes approach, we established eight critical time points during which human healthy and FSHD myogenesis differ. RNA-sequencing at these eight nodal time points in triplicate, provided temporal depth for a multivariate regression analysis, allowing assessment of interaction between progression of differentiation and FSHD disease status. Importantly, the unique size and structure of our data permitted identification of many novel FSHD pathomechanisms undetectable by previous approaches. For further analysis here, we selected pathways that control mitochondria: of interest considering known alterations in mitochondrial structure and function in FSHD muscle, and sensitivity of FSHD cells to oxidative stress. Notably, we identified suppression of mitochondrial biogenesis, in particular via peroxisome proliferator-activated receptor gamma coactivator 1-\u03b1 (PGC1\u03b1), the cofactor and activator of oestrogen-related receptor \u03b1 (ERR\u03b1). PGC1\u03b1 knock-down caused hypotrophic myotubes to form from control myoblasts. Known ERR\u03b1 agonists and safe food supplements biochanin A, daidzein or genistein, each rescued the hypotrophic FSHD myotube phenotype. Together our work describes transcriptomic changes in high resolution that occur during myogenesis in FSHD ex vivo, identifying suppression of the PGC1\u03b1-ERR\u03b1 axis leading to perturbed myogenic differentiation, which can effectively be rescued by readily available food supplements.<\/jats:p>","DOI":"10.1093\/hmg\/ddy405","type":"journal-article","created":{"date-parts":[[2018,11,20]],"date-time":"2018-11-20T14:52:40Z","timestamp":1542725560000},"page":"1244-1259","source":"Crossref","is-referenced-by-count":65,"title":["Dynamic transcriptomic analysis reveals suppression of PGC1\u03b1\/ERR\u03b1 drives perturbed myogenesis in facioscapulohumeral muscular dystrophy"],"prefix":"10.1093","volume":"28","author":[{"given":"Christopher R S","family":"Banerji","sequence":"first","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK"},{"name":"Department of Computer Science, University College London, London, UK"},{"name":"Centre of Mathematics and Physics in the Life Sciences and Experimental Biology, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maryna","family":"Panamarova","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johanna","family":"Pruller","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Figeac","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Husam","family":"Hebaishi","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Efthymios","family":"Fidanis","sequence":"additional","affiliation":[{"name":"Genomics Research Platform, Biomedical Research Centre at Guy\u2019s and St Thomas\u2019 Trust and Kings College London, Guy\u2019s Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alka","family":"Saxena","sequence":"additional","affiliation":[{"name":"Genomics Research Platform, Biomedical Research Centre at Guy\u2019s and St Thomas\u2019 Trust and Kings College London, Guy\u2019s Hospital, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian","family":"Contet","sequence":"additional","affiliation":[{"name":"Institute for Research on Cancer and Aging of Nice, Faculty of Medicine, Universit\u00e9 C\u00f4te d'Azur, Nice, Cedex, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Sacconi","sequence":"additional","affiliation":[{"name":"Institute for Research on Cancer and Aging of Nice, Faculty of Medicine, Universit\u00e9 C\u00f4te d'Azur, Nice, Cedex, France"},{"name":"Peripheral Nervous System, Muscle and ALS Department, Universit\u00e9 C\u00f4te d'Azur, Nice, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simone","family":"Severini","sequence":"additional","affiliation":[{"name":"Department of Computer Science, University College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter S","family":"Zammit","sequence":"additional","affiliation":[{"name":"Randall Centre for Cell and Molecular Biophysics, New Hunt's House, Guy's Campus, King's College London, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2018,12,6]]},"reference":[{"key":"2019121022393075600_ref1","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1212\/WNL.0000000000000797","article-title":"Population-based incidence and prevalence of facioscapulohumeral dystrophy","volume":"83","author":"Deenen","year":"2014","journal-title":"Neurology"},{"key":"2019121022393075600_ref2","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/B978-0-08-045031-5.00013-X","article-title":"Facioscapulohumeral dystrophy and scapuloperoneal syndromes","volume":"101","author":"Orrell","year":"2011","journal-title":"Handb Clin Neurol."},{"key":"2019121022393075600_ref3","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1186\/2044-5040-4-12","article-title":"Facioscapulohumeral dystrophy: the path to consensus on pathophysiology","volume":"4","author":"Tawil","year":"2014","journal-title":"Skelet. Muscle"},{"key":"2019121022393075600_ref4","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1212\/01.wnl.0000251269.31442.d9","article-title":"Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy","volume":"68","author":"Osborne","year":"2007","journal-title":"Neurology"},{"key":"2019121022393075600_ref5","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.nmd.2011.02.002","article-title":"Retinal vascular disease and the pathogenesis of facioscapulohumeral muscular dystrophy. A signalling message from Wnt?","volume":"21","author":"Fitzsimons","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"2019121022393075600_ref6","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1212\/WNL.0b013e3182a84140","article-title":"Clinical and genetic features of hearing loss in facioscapulohumeral muscular dystrophy","volume":"81","author":"Lutz","year":"2013","journal-title":"Neurology"},{"key":"2019121022393075600_ref7","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.nmd.2011.11.001","article-title":"Mutation spectrum and phenotypic manifestation in FSHD Greek patients","volume":"22","author":"Sakellariou","year":"2012","journal-title":"Neuromuscul. Disord."},{"key":"2019121022393075600_ref8","doi-asserted-by":"crossref","first-page":"345","DOI":"10.1212\/WNL.43.2.345","article-title":"Extreme variability of expression in monozygotic twins with FSH muscular dystrophy","volume":"43","author":"Tawil","year":"1993","journal-title":"Neurology"},{"key":"2019121022393075600_ref9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.nmd.2003.07.001","article-title":"Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD)","volume":"14","author":"Tonini","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"2019121022393075600_ref10","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1136\/jmedgenet-2015-103436","article-title":"Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2","volume":"53","author":"Calandra","year":"2016","journal-title":"J. Med. Genet."},{"key":"2019121022393075600_ref11","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for facioscapulohumeral muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"2019121022393075600_ref12","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2","volume":"44","author":"Lemmers","year":"2012","journal-title":"Nat. Genet."},{"key":"2019121022393075600_ref13","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ajhg.2016.03.013","article-title":"Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy","volume":"98","author":"Boogaard","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"2019121022393075600_ref14","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/ng.3844","article-title":"Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL\/HERVL retrotransposons","volume":"49","author":"Hendrickson","year":"2017","journal-title":"Nat. Genet."},{"key":"2019121022393075600_ref15","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1038\/ng.3846","article-title":"Conservation and innovation in the DUX4-family gene network","volume":"49","author":"Whiddon","year":"2017","journal-title":"Nat. Genet."},{"key":"2019121022393075600_ref16","doi-asserted-by":"crossref","first-page":"2766","DOI":"10.1038\/emboj.2008.201","article-title":"An isogenetic myoblast expression screen identifies DUX4-mediated FSHD-associated molecular pathologies","volume":"27","author":"Bosnakovski","year":"2008","journal-title":"EMBO J."},{"key":"2019121022393075600_ref17","doi-asserted-by":"crossref","first-page":"2152","DOI":"10.1038\/s41467-017-01200-4","article-title":"PAX7 target genes are globally repressed in facioscapulohumeral muscular dystrophy skeletal muscle","volume":"8","author":"Banerji","year":"2017","journal-title":"Nat. Commun."},{"key":"2019121022393075600_ref18","doi-asserted-by":"crossref","first-page":"2845","DOI":"10.1242\/dev.069088","article-title":"Satellite cells are essential for skeletal muscle regeneration: the cell on the edge returns centre stage","volume":"139","author":"Relaix","year":"2012","journal-title":"Development"},{"key":"2019121022393075600_ref19","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1111\/j.1582-4934.2008.00368.x","article-title":"Myoblasts from affected and non-affected FSHD muscles exhibit morphological differentiation defects","volume":"14","author":"Barro","year":"2010","journal-title":"J. Cell. Mol. Med."},{"key":"2019121022393075600_ref20","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.freeradbiomed.2014.09.014","article-title":"Effects of vitamin C, vitamin E, zinc gluconate, and selenomethionine supplementation on muscle function and oxidative stress biomarkers in patients with facioscapulohumeral dystrophy: a double-blind randomized controlled clinical trial","volume":"81","author":"Passerieux","year":"2015","journal-title":"Free Radic. Biol. Med."},{"key":"2019121022393075600_ref21","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1016\/j.freeradbiomed.2012.06.041","article-title":"Functional muscle impairment in facioscapulohumeral muscular dystrophy is correlated with oxidative stress and mitochondrial dysfunction","volume":"53","author":"Turki","year":"2012","journal-title":"Free Radic. Biol. Med."},{"key":"2019121022393075600_ref22","doi-asserted-by":"crossref","first-page":"e51865","DOI":"10.1371\/journal.pone.0051865","article-title":"FSHD myotubes with different phenotypes exhibit distinct proteomes","volume":"7","author":"Tassin","year":"2012","journal-title":"PLoS One"},{"key":"2019121022393075600_ref23","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13395-017-0148-4","article-title":"Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei","volume":"8","author":"Vanderplanck","year":"2018","journal-title":"Skelet. Muscle"},{"key":"2019121022393075600_ref24","doi-asserted-by":"crossref","first-page":"e26820","DOI":"10.1371\/journal.pone.0026820","article-title":"The FSHD atrophic myotube phenotype is caused by DUX4 expression","volume":"6","author":"Vanderplanck","year":"2011","journal-title":"PLoS One"},{"key":"2019121022393075600_ref25","doi-asserted-by":"crossref","first-page":"e1001181","DOI":"10.1371\/journal.pgen.1001181","article-title":"Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene","volume":"6","author":"Snider","year":"2010","journal-title":"PLoS Genet."},{"key":"2019121022393075600_ref26","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1016\/j.ajpath.2012.07.007","article-title":"Generation of isogenic D4Z4 contracted and noncontracted immortal muscle cell clones from a mosaic patient","volume":"181","author":"Krom","year":"2012","journal-title":"Am. J. Pathol."},{"key":"2019121022393075600_ref27","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1038\/nrm.2016.7","article-title":"Molecular circuitry of stem cell fate in skeletal muscle regeneration, ageing and disease","volume":"17","author":"Almada","year":"2016","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"2019121022393075600_ref28","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1096\/fj.03-0568fje","article-title":"Expression profiling and identification of novel genes involved in myogenic differentiation","volume":"18","author":"Tomczak","year":"2003","journal-title":"FASEB J."},{"key":"2019121022393075600_ref29","doi-asserted-by":"crossref","first-page":"11988","DOI":"10.1038\/ncomms11988","article-title":"Mpath maps multi-branching single-cell trajectories revealing progenitor cell progression during development","volume":"7","author":"Chen","year":"2016","journal-title":"Nat. Commun."},{"key":"2019121022393075600_ref30","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1186\/1755-8794-4-67","article-title":"Gene expression during normal and FSHD myogenesis","volume":"4","author":"Tsumagari","year":"2011","journal-title":"BMC Med. Genomics"},{"key":"2019121022393075600_ref31","doi-asserted-by":"crossref","first-page":"e20966","DOI":"10.1371\/journal.pone.0020966","article-title":"Expression profiling of FSHD-1 and FSHD-2 cells during myogenic differentiation evidences common and distinctive gene dysregulation patterns","volume":"6","author":"Cheli","year":"2011","journal-title":"PLoS One"},{"key":"2019121022393075600_ref32","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1172\/JCI27794","article-title":"PGC-1 coactivators: inducible regulators of energy metabolism in health and disease","volume":"116","author":"Finck","year":"2006","journal-title":"J. Clin. Invest."},{"key":"2019121022393075600_ref33","doi-asserted-by":"crossref","first-page":"8805","DOI":"10.1158\/0008-5472.CAN-08-1594","article-title":"Estrogen-related receptor alpha is critical for the growth of estrogen receptor-negative breast cancer","volume":"68","author":"Stein","year":"2008","journal-title":"Cancer Res."},{"key":"2019121022393075600_ref34","first-page":"981","article-title":"Flavone and isoflavone phytoestrogens are agonists of estrogen-related receptors","volume":"1","author":"Suetsugi","year":"2003","journal-title":"Mol. Cancer Res."},{"key":"2019121022393075600_ref35","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/ejhg.2011.213","article-title":"A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function","volume":"20","author":"Homma","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"2019121022393075600_ref36","doi-asserted-by":"crossref","first-page":"979","DOI":"10.1093\/bioinformatics\/btq046","article-title":"EBImage\u2014an R package for image processing with applications to cellular phenotypes","volume":"26","author":"Pau","year":"2010","journal-title":"Bioinformatics"},{"key":"2019121022393075600_ref37","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1186\/1471-213X-10-21","article-title":"Dynamics of muscle fibre growth during postnatal mouse development","volume":"10","author":"White","year":"2010","journal-title":"BMC Dev. Biol."},{"key":"2019121022393075600_ref38","doi-asserted-by":"crossref","first-page":"3816","DOI":"10.1242\/jcs.180372","article-title":"DUX4 induces a transcriptome more characteristic of a less-differentiated cell state and inhibits myogenesis","volume":"129","author":"Knopp","year":"2016","journal-title":"J. Cell Sci."},{"key":"2019121022393075600_ref39","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2019121022393075600_ref40","doi-asserted-by":"crossref","first-page":"1133","DOI":"10.1080\/15592294.2015.1113798","article-title":"Increased DUX4 expression during muscle differentiation correlates with decreased SMCHD1 protein levels at D4Z4","volume":"10","author":"Balog","year":"2015","journal-title":"Epigenetics"},{"key":"2019121022393075600_ref41","doi-asserted-by":"crossref","first-page":"579","DOI":"10.4161\/epi.20001","article-title":"Correlation analysis of clinical parameters with epigenetic modifications in the DUX4 promoter in FSHD","volume":"7","author":"Balog","year":"2012","journal-title":"Epigenetics"},{"key":"2019121022393075600_ref42","doi-asserted-by":"crossref","first-page":"e1000559","DOI":"10.1371\/journal.pgen.1000559","article-title":"Specific loss of histone H3 lysine 9 trimethylation and HP1gamma\/cohesin binding at D4Z4 repeats is associated with facioscapulohumeral dystrophy (FSHD)","volume":"5","author":"Zeng","year":"2009","journal-title":"PLoS Genet."},{"key":"2019121022393075600_ref43","doi-asserted-by":"crossref","first-page":"20140797","DOI":"10.1098\/rsif.2014.0797","article-title":"Beta-catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy","volume":"12","author":"Banerji","year":"2014","journal-title":"J. R. Soc. Interface"},{"key":"2019121022393075600_ref44","doi-asserted-by":"crossref","first-page":"4661","DOI":"10.1093\/hmg\/ddt314","article-title":"Wnt\/\u03b2-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells","volume":"22","author":"Block","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"2019121022393075600_ref45","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1093\/hmg\/ddg327","article-title":"Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation","volume":"12","author":"Winokur","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"2019121022393075600_ref46","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.freeradbiomed.2016.08.007","article-title":"DUX4-induced constitutive DNA damage and oxidative stress contribute to aberrant differentiation of myoblasts from FSHD patients","volume":"99","author":"Dmitriev","year":"2016","journal-title":"Free Radic. Biol. Med."},{"key":"2019121022393075600_ref47","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1258\/mi.2007.007033","article-title":"Red clover isoflavones are safe and well tolerated in women with a family history of breast cancer","volume":"14","author":"Powles","year":"2008","journal-title":"Menopause Int."},{"key":"2019121022393075600_ref48","doi-asserted-by":"crossref","first-page":"1156","DOI":"10.1097\/gme.0b013e3181ace49b","article-title":"Safety and efficacy of black cohosh and red clover for the management of vasomotor symptoms: a randomized controlled trial","volume":"16","author":"Geller","year":"2009","journal-title":"Menopause"},{"key":"2019121022393075600_ref49","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1016\/j.bbadis.2014.05.021","article-title":"Facioscapulohumeral muscular dystrophy","volume":"1852","author":"Sacconi","year":"2015","journal-title":"Biochim. Biophys. Acta"},{"key":"2019121022393075600_ref50","doi-asserted-by":"crossref","first-page":"6472","DOI":"10.1073\/pnas.0308686101","article-title":"The estrogen-related receptor (ERR) functions in PPAR coactivator 1 (PGC-1)-induced mitochondrial biogenesis","volume":"101","author":"Schreiber","year":"2004","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"2019121022393075600_ref51","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/j.jsbmb.2015.06.009","article-title":"There and back again: the journey of the estrogen-related receptors in the cancer realm","volume":"157","author":"Tam","year":"2016","journal-title":"J. Steroid Biochem. Mol. Biol."},{"key":"2019121022393075600_ref52","doi-asserted-by":"crossref","first-page":"562","DOI":"10.1016\/j.cardiores.2005.01.026","article-title":"PGC-1\u03b1 regulates the mitochondrial antioxidant defense system in vascular endothelial cells","volume":"66","author":"Valle","year":"2005","journal-title":"Cardiovasc. Res."},{"key":"2019121022393075600_ref53","doi-asserted-by":"crossref","first-page":"7199","DOI":"10.3390\/ijms12107199","article-title":"Roles of oxidative stress, apoptosis, PGC-1\u03b1 and mitochondrial biogenesis in cerebral ischemia","volume":"12","author":"Chen","year":"2011","journal-title":"Int. J. Mol. Sci."},{"key":"2019121022393075600_ref54","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/nature06613","article-title":"HIF-independent regulation of VEGF and angiogenesis by the transcriptional coactivator PGC-1\u03b1","volume":"451","author":"Arany","year":"2008","journal-title":"Nature"},{"key":"2019121022393075600_ref55","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/j.ajpath.2012.09.003","article-title":"PGC-1\u03b1 regulates normal and pathological angiogenesis in the retina","volume":"182","author":"Saint-Geniez","year":"2013","journal-title":"Am. J. Pathol."},{"key":"2019121022393075600_ref56","doi-asserted-by":"crossref","first-page":"291","DOI":"10.3233\/JND-150077","article-title":"Immunohistochemical characterization of facioscapulohumeral muscular dystrophy muscle biopsies","volume":"2","author":"Statland","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"2019121022393075600_ref57","doi-asserted-by":"crossref","first-page":"1274","DOI":"10.1016\/j.exger.2013.07.015","article-title":"Role of PGC-1\u03b1 in exercise training- and resveratrol-induced prevention of age-associated inflammation","volume":"48","author":"Olesen","year":"2013","journal-title":"Exp. Gerontol."},{"key":"2019121022393075600_ref58","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/s10875-010-9474-6","article-title":"CD8+ T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI","volume":"31","author":"Frisullo","year":"2011","journal-title":"J. Clin. Immunol."},{"key":"2019121022393075600_ref59","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0159181","article-title":"Glucocorticoids alter CRTC-CREB signaling in muscle cells: impact on PGC-1\u03b1 expression and atrophy markers","volume":"11","author":"Rahnert","year":"2016","journal-title":"PLoS One"},{"key":"2019121022393075600_ref60","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1016\/j.metabol.2014.01.006","article-title":"The many roles of PGC-1\u03b1 in muscle\u2014recent developments","volume":"63","author":"Chan","year":"2014","journal-title":"Metabolism"},{"key":"2019121022393075600_ref61","doi-asserted-by":"crossref","first-page":"3441","DOI":"10.1210\/en.2006-1646","article-title":"An increase in murine skeletal muscle peroxisome proliferator-activated receptor-\u03b3 coactivator-1\u03b1 (PGC-1\u03b1) mRNA in response to exercise is mediated by \u03b2-adrenergic receptor activation","volume":"148","author":"Miura","year":"2007","journal-title":"Endocrinology"},{"key":"2019121022393075600_ref62","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1212\/WNL.57.8.1434","article-title":"Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy","volume":"57","author":"Kissel","year":"2001","journal-title":"Neurology"},{"key":"2019121022393075600_ref63","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1212\/WNL.50.5.1402","article-title":"Pilot trial of albuterol in facioscapulohumeral muscular dystrophy. FSH-DY Group","volume":"50","author":"Kissel","year":"1998","journal-title":"Neurology"},{"key":"2019121022393075600_ref64","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1212\/01.WNL.0000134660.30793.1F","article-title":"Strength training and albuterol in facioscapulohumeral muscular dystrophy","volume":"63","author":"Kooi","year":"2004","journal-title":"Neurology"},{"key":"2019121022393075600_ref65","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1007\/s00415-006-0432-4","article-title":"Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy","volume":"254","author":"Kooi","year":"2007","journal-title":"J. Neurol."},{"key":"2019121022393075600_ref66","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1016\/j.apmr.2008.12.027","article-title":"Periodic salbutamol in facioscapulohumeral muscular dystrophy: a randomized controlled trial","volume":"90","author":"Payan","year":"2009","journal-title":"Arch. Phys. Med. Rehabil."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/8\/1244\/28274998\/ddy405.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/28\/8\/1244\/28274998\/ddy405.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,12,10]],"date-time":"2019-12-10T22:44:53Z","timestamp":1576017893000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/28\/8\/1244\/5194059"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,6]]},"references-count":66,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2018,12,6]]},"published-print":{"date-parts":[[2019,4,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddy405","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2019,4,15]]},"published":{"date-parts":[[2018,12,6]]}}}