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 (insert URL), 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.

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Publications from 2014

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Myogenic Enhancers Regulate Expression of the Facioscapulohumeral Muscular Dystrophy-Associated DUX4 Gene, Charis L. Himeda, Celine Debarnot, Sachiko Homma, Mary Lou Beermann, Jeffrey B. Miller, Peter L. Jones, and Takako I. Jones

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A new role for Hedgehogs in juxtacrine signaling, Christopher A. Pettigrew, Eva Asp, and Charles P. Emerson Jr.

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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

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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.

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Exome sequencing to identify de novo mutations in sporadic ALS trios, Alessandra Chesi, Brett T. Staahl, Ana Jovicic, Julien Couthouis, Maria Fasolino, Alya R. Raphael, Tomohiro Yamazaki, Laura Elias, Meraida Polak, Crystal Kelly, Kelly L. Williams, Jennifer A. Fifita, Nicholas J. Maragakis, Garth A. Nicholson, Oliver D. King, Robin Reed, Gerald R. Crabtree, Ian P. Blair, Jonathan D. Glass, and Aaron D. Gitler

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Pax3 synergizes with Gli2 and Zic1 in transactivating the Myf5 epaxial somite enhancer, Charis Himeda, Marietta V. Barro, and Charles P. Emerson Jr.

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Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases, Walker S. Jackson, Andrew W. Borkowski, Nicki E. Watson, Oliver D. King, Henryk Faas, Alan Jasanoff, and Susan Lindquist

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Molecular Mechanisms of FSH Muscular Dystrophy Pathogenesis, Peter L. Jones and Takako I. Jones

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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

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Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS, Hong Joo Kim, Nam Chul Kim, Yong-Dong Wang, Emily A. Scarborough, Jennifer Moore, Zamia Diaz, Kyle S. MacLea, Brian Freibaum, Songqing Li, Amandine Molliex, Anderson P. Kanagaraj, Robert Carter, Kevin B. Boylan, Aleksandra M. Wojtas, Rosa Rademakers, Jack L. Pinkus, Steven A. Greenberg, John Q. Trojanowski, Bryan J. Traynor, Bradley N. Smith, Simon Topp, Athina-Soragia Gkazi, Jack Miller, Christopher E. Shaw, Michael Kottlors, Janbernd Kirschner, Alan Pestronk, Yun R. Li, Alice Flynn Ford, Aaron D. Gitler, Michael Benatar, Oliver D. King, Virginia E. Kimonis, Eric D. Ross, Conrad C. Weihl, James Shorter, and J. Paul Taylor

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Stress granules as crucibles of ALS pathogenesis, Yun R. Li, Oliver D. King, James Shorter, and Aaron D. Gitler

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Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy, Hiroaki Mitsuhashi, Satomi Mitsuhashi, Taylor Lynn-Jones, Genri Kawahara, and Louis M. Kunkel

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Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2, Satomi Mitsuhashi, Steven E. Boyden, Elicia A. Estrella, Takako I. Jones, Fedik Rahimov, Timothy W. Yu, Basil T. Darras, Anthony A. Amato, Rebecca D. Folkerth, Peter L. Jones, Louis M. Kunkel, and Peter B. Kang

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A new approach for the study of lung smooth muscle phenotypes and its application in a murine model of allergic airway inflammation, Jesus Paez-Cortez, Ramaswamy Krishnan, Anneliese Arno, Linh Aven, Sumati Ram-Mohan, Kruti R. Patel, Jining Lu, Oliver D. King, Xingbin Ai, and Alan Fine

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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

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Dux4 Target Gene Expression in Mouse Muscle Transplanted with Muscle Cells from FSHD Patients, James A. Windelborn and Charles P. Emerson, Jr.

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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

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Facioscapulohumeral Muscular Dystrophy: Unraveling the Mysteries of a Complex Epigenetic Disease, Charis Himeda and Charles P. Emerson, Jr.

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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

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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

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Optimization of large gel 2D electrophoresis for proteomic studies of skeletal muscle, Patrick W. Reed, Allison Densmore, and Robert J. Bloch

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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

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Peripheral nerve pathology, including aberrant Schwann cell differentiation, is ameliorated by doxycycline in a laminin-alpha2-deficient mouse model of congenital muscular dystrophy, Sachiko Homma, Mary Lou Beermann, and Jeffrey Boone Miller

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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

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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

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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

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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

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Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy, Vivek K. Vishnudas and Jeffrey Boone Miller