The mission of the University of Massachusetts Medical School Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD is to further our understanding of the underlying molecular, genetic and epigenetic pathologies of facioscapulohumeral muscular dystrophy (FSHD) and to translate this basic understanding into the clinic through development of FSHD therapeutics. To achieve this objective, the Wellstone Center has established a large repository of FSHD muscle tissue and derived muscle cells, available to FSHD researchers worldwide, and developed a FSHD disease biomarker database and new disease models for pre-clinical research to develop FSHD therapeutics for clinical trials. The Center, led by Dr. Charles P. Emerson at the University of Massachusetts Medical School and Dr. Louis Kunkel at Children's Hospital Boston, is an highly collaborative and multidisciplinary team of basic and clinical investigators with laboratories at the University of Massachusetts Medical School, Children’s Hospital Boston, and Kennedy Krieger Institute in Baltimore, and partnered with the FSH Society for patient outreach activities and with biotech industry for therapeutic development. This partnership of basic, clinical and industry scientists with FSHD patients and their families enables the Wellstone Center to make unique contributions towards development of new treatments for this devastating disease and to provide leadership for FSHD research world-wide. This collection showcases journal articles and other publications and presentations authored by researchers in the Wellstone Center for FSHD.
Publications from 2021
p38 MAPKs - roles in skeletal muscle physiology, disease mechanisms, and as potential therapeutic targets, Christopher M. Brennan, Charles P. Emerson Jr., Jane Owens, and Nicolas Christoforou
Publications from 2020
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy, Angela Lek, Alec DeSimone, Oliver D. King, and Louis M. Kunkel
A meta-analysis of brain DNA methylation across sex, age and Alzheimer’s disease points for accelerated epigenetic aging in neurodegeneration [preprint], C. Pellegrini, Danielle Fernandes Durso, and Maria Giulia Bacalini
Salivary metabolite levels in perinatally HIV-infected youth with periodontal disease, Fabian Schulte, Oliver D. King, Bruce J. Paster, Anna-Barbara Moscicki, Tzy-Jyun Yao, Russell B. Van Dyke, Caroline Shiboski, Mark Ryder, George Seage, and Markus Hardt
Publications from 2019
Identification of the hyaluronic acid pathway as a therapeutic target for facioscapulohumeral muscular dystrophy, Alec M. DeSimone; John D. Leszyk; Kathryn Wagner; and Charles P. Emerson, Jr.
Precise therapeutic gene correction by a simple nuclease-induced double-stranded break, Sukanya Iyer, Sneha Suresh, Dongsheng Guo, Katelyn Daman, Jennifer C. J. Chen, Pengpeng Liu, Marina Zieger, Kevin Luk, Benjamin P. Roscoe, Christian Mueller, Oliver D. King, Charles P. Emerson Jr., and Scot A. Wolfe
Publications from 2017
Antisense Oligonucleotides Used to Target the DUX4 mRNA as Therapeutic Approaches in FaciosScapuloHumeral Muscular Dystrophy (FSHD), Eugenie Ansseau, Celine Vanderplanck, Armelle Wauters, Scott Q. Harper, Frederique Coppee, and Alexandra Belayew
Bone Health in Facioscapulohumeral Muscular Dystrophy: A Cross-Sectional Study, Hema Chagarlamudi, Alastair Corbett, Marion Stoll, Genila Bibat, Carla Grosmann, Carly Matichak Stock, Nikia Stinson, Jay Shapiro, and Kathryn Wagner
Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy, Katy Eichinger, Chad Heatwole, Susanne Heininger, Nikia Stinson, Carly Matichak Stock, Carla Grosmann, Kathryn R. Wagner, Rabi Tawil, Jeffrey M. Statland, and FSHD Clinical Trials Research Network
CRISPR/Cas9-mediated genome editing induces exon skipping by alternative splicing or exon deletion, Haiwei Mou, Jordan L. Smith, Lingtao Peng, Jill Moore, Xiao-Ou Zhang, Chun-Qing Song, Ankur Sheel, Deniz M. Ozata, Yingxiang Li, Charles P. Emerson Jr., Erik J. Sontheimer, Melissa J. Moore, Zhiping Weng, and Wen Xue
Publications from 2016
Homologous Transcription Factors DUX4 and DUX4c Associate with Cytoplasmic Proteins during Muscle Differentiation, Eugenie Ansseau, Jocelyn O. Eidahl, Celine Lancelot, Alexandra Tassin, Christel Matteotti, Cassandre Yip, Jian Liu, Baptiste Leroy, Celine Hubeau, Cecile Gerbaux, Samuel Cloet, Armelle Wauters, Sabrina Zorbo, Pierre Meyer, Isabelle Pirson, Dalila Laoudj-Chenivesse, Ruddy Wattiez, Scott Q. Harper, Alexandra Belayew, and Frederique Coppee
Morpholino-mediated Knockdown of DUX4 Toward Facioscapulohumeral Muscular Dystrophy Therapeutics, Jennifer C. J. Chen, Oliver D. King, Yuanfan Zhang, Nicholas P. Clayton, Carrie Spencer, Bruce M. Wentworth, Charles P. Emerson Jr., and Kathryn R. Wagner (Molecular therapy : the journal of the American Society of Gene Therapy)
Mouse Dux is myotoxic and shares partial functional homology with its human paralog DUX4, Jocelyn O. Eidahl, Carlee R. Giesige, Jacqueline S. Domire, Lindsay M. Wallace, Allison M. Fowler, Susan M. Guckes, Sara E. Garwick-Coppens, Paul Labhart, and Scott Q. Harper
Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy, Jeffrey J. Widrick, Matthew Alexander, Benjamin Sanchez, Devin Gibbs, Genri Kawahara, Alan Beggs, and Louis Kunkel
Publications from 2015
Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy, Takako I. Jones, Oliver D. King, Charis L. Himeda, Sachiko Homma, Jennifer C. J. Chen, Mary Lou. Beermann, Chi Yan, Charles P. Emerson Jr., Jeffrey B. Miller, Kathryn R. Wagner, and Peter L. Jones
Emerging preclinical animal models for FSHD, Angela Lek, Fedik Rahimov, Peter L. Jones, and Louis M. Kunkel
Publications from 2014
Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing, Takako I. Jones, Chi Yan, Peter C. Sapp, Diane McKenna-Yasek, Peter B. Kang, Colin Quinn, Johnny S. Salameh, Oliver D. King, and Peter L. Jones
Human skeletal muscle xenograft as a new preclinical model for muscle disorders, Yuanfan Zhang, Oliver D. King, Fedik Rahimov, Takako I. Jones, Christopher W. Ward, Jaclyn P. Kerr, Naili Liu, Charles P. Emerson Jr., Louis M. Kunkel, Terence A. Partridge, and Kathryn R. Wagner
Publications from 2013
Analysis of Myogenic and Candidate Disease Biomarkers in FSHD Muscle Cells, Jennifer C. J. Chen; Takako I. Jones; Oliver D. King; Kendal Hanger; Fedik Rahimov; Sachiko Homma; Mary Lou Beermann; Genila M. Bibat; Jeffrey B. Miller; Louise M. Kunkel; Kathryn R. Wagner; Peter L. Jones; and Charles P. Emerson, Jr.
Epigenetic variability is a modifier of facioscapulohumeral muscular dystrophy, Takako I. Jones; Chia-Yun Sun; Celine Debarnot; Charis Himeda; Charles P. Emerson, Jr.; and Peter L. Jones
Stress granules as crucibles of ALS pathogenesis, Yun R. Li, Oliver D. King, James Shorter, and Aaron D. Gitler
Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy, Hiroaki Mitsuhashi, Satomi Mitsuhashi, Taylor Lynn-Jones, Genri Kawahara, and Louis M. Kunkel
Facioscapulohumeral muscular dystrophy: Are telomeres the end of the story, Guido Stadler, Oliver D. King, Jerome D. Robin, Jerry W. Shay, and Woodring E. Wright
Telomere position effect regulates DUX4 in human facioscapulohumeral muscular dystrophy, Guido Stadler, Fedik Rahimov, Oliver D. King, Jennifer C. J. Chen, Jerome D. Robin, Kathryn R. Wagner, Jerry W. Shay, Charles P. Emerson Jr., and Woodring E. Wright
Dux4 Target Gene Expression in Mouse Muscle Transplanted with Muscle Cells from FSHD Patients, James A. Windelborn and Charles P. Emerson, Jr.
Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research, Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V. Schmidt, James A. Windelborn, Peter Schneiderat, Woodring E. Wright, and Jeffrey Boone Miller
Publications from 2012
Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease, Charis Himeda and Charles P. Emerson, Jr.
Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis, Takako I. Jones; Jennifer Cj Chen; Fedik Rahimov; Sachiko Homma; Patricia Arashiro; Mary Lou Beermann; Oliver D. King; Jeffrey Boone Miller; Louis M. Kunkel; Charles P. Emerson, Jr.; Kathryn R. Wagner; and Peter L. Jones
Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers, Fedik Rahimov, Oliver D. King, Doris G. Leung, Genila M. Bibat, Charles P. Emerson Jr., Louis M. Kunkel, and Kathryn R. Wagner
Optimization of large gel 2D electrophoresis for proteomic studies of skeletal muscle, Patrick W. Reed, Allison Densmore, and Robert J. Bloch
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy, Isabella Scionti, Francesca Greco, Giulia Ricci, Monica Govi, Patricia Arashiro, Liliana Vercelli, Angela Berardinelli, Corrado Angelini, Giovanni Antonini, Michelangelo Cao, Antonio Di Muzio, Maurizio Moggio, Lucia Morandi, Enzo Ricci, Carmelo Rodolico, Lucia Ruggiero, Lucio Santoro, Gabriele Siciliano, Giuliano Tomelleri, Carlo Pietro Trevisan, Giuliana Galluzzi, Woodring E. Wright, Mayana Zatz, and Rossella Ginevra Tupler
Publications from 2011
A unique library of myogenic cells from facioscapulohumeral muscular dystrophy subjects and unaffected relatives: family, disease and cell function, Sachiko Homma; Jennifer Cj Chen; Fedik Rahimov; Mary Lou Beermann; Kendal Hanger; Genila M. Bibat; Kathryn R. Wagner; Louis M. Kunkel; Charles P. Emerson, Jr.; and Jeffrey Boone Miller
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor, Fedik Rahimov, Oliver D. King, Leigh C. Warsing, Rachel E. Powell, Charles P. Emerson Jr., Louis M. Kunkel, and Kathryn R. Wagner
Gene expression profiling of skeletal muscles treated with a soluble activin type IIB receptor, Fedik Rahimov; Oliver D. King; Leigh C. Warsing; Rachel E. Powell; Charles P. Emerson, Jr.; Louis M. Kunkel; and Kathryn R. Wagner
Establishment of clonal myogenic cell lines from severely affected dystrophic muscles - CDK4 maintains the myogenic population, Guido Stadler; Jennifer Cj Chen; Kathryn Wagner; Jerome D. Robin; Jerry W. Shay; Charles P. Emerson, Jr.; and Woodring E. Wright
Publications from 2009
Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers, Patricia Arashiro, Iris Eisenberg, Alvin T. Kho, Antonia M. P. Cerqueira, Marta Canovas, Helga C. A. Silva, Rita C. M. Pavanello, Sergio Verjovski-Almeida, Louis M. Kunkel, and Mayana Zatz