Literature DB >> 32250345

It's not all about muscle: fibroadipogenic progenitors contribute to facioscapulohumeral muscular dystrophy.

Carlo Serra1,2, Kathryn R Wagner1,2,3.   

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) results from expression of the full-length double homeobox 4 (DUX4-FL) retrogene in skeletal muscle. However, even in cases of severe FSHD the presence of DUX4 is barely detectable. In this issue of the JCI, Bosnakovski et al. used an inducible, muscle-specific human DUX4 to reproduce the low-level, sporadic DUX4 expression of human FSHD muscle as well the myopathology seen in human FSHD disease. Notably, dysregulated fibroadipogenic progenitors accumulated in affected muscles, thus providing a mechanism for the replacement of muscle by fibrosis and fat.

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Year:  2020        PMID: 32250345      PMCID: PMC7190910          DOI: 10.1172/JCI136133

Source DB:  PubMed          Journal:  J Clin Invest        ISSN: 0021-9738            Impact factor:   14.808


  25 in total

1.  Mesenchymal progenitors distinct from satellite cells contribute to ectopic fat cell formation in skeletal muscle.

Authors:  Akiyoshi Uezumi; So-ichiro Fukada; Naoki Yamamoto; Shin'ichi Takeda; Kunihiro Tsuchida
Journal:  Nat Cell Biol       Date:  2010-01-17       Impact factor: 28.824

2.  MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD.

Authors:  Leo H Wang; Seth D Friedman; Dennis Shaw; Lauren Snider; Chao-Jen Wong; Chris B Budech; Sandra L Poliachik; Nancy E Gove; Leann M Lewis; Amy E Campbell; Richard J F L Lemmers; Silvère M Maarel; Stephen J Tapscott; Rabi N Tawil
Journal:  Hum Mol Genet       Date:  2019-02-01       Impact factor: 6.150

3.  DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.

Authors:  Linda N Geng; Zizhen Yao; Lauren Snider; Abraham P Fong; Jennifer N Cech; Janet M Young; Silvere M van der Maarel; Walter L Ruzzo; Robert C Gentleman; Rabi Tawil; Stephen J Tapscott
Journal:  Dev Cell       Date:  2011-12-29       Impact factor: 12.270

4.  Analysis of the tandem repeat locus D4Z4 associated with facioscapulohumeral muscular dystrophy.

Authors:  J E Hewitt; R Lyle; L N Clark; E M Valleley; T J Wright; C Wijmenga; J C van Deutekom; F Francis; P T Sharpe; M Hofker
Journal:  Hum Mol Genet       Date:  1994-08       Impact factor: 6.150

5.  Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis.

Authors:  Luca Madaro; Magda Passafaro; David Sala; Usue Etxaniz; Francesca Lugarini; Daisy Proietti; Maria Vittoria Alfonsi; Chiara Nicoletti; Sole Gatto; Marco De Bardi; Ricardo Rojas-García; Lorenzo Giordani; Sara Marinelli; Vittoria Pagliarini; Claudio Sette; Alessandra Sacco; Pier Lorenzo Puri
Journal:  Nat Cell Biol       Date:  2018-07-26       Impact factor: 28.824

6.  Nilotinib reduces muscle fibrosis in chronic muscle injury by promoting TNF-mediated apoptosis of fibro/adipogenic progenitors.

Authors:  Dario R Lemos; Farshad Babaeijandaghi; Marcela Low; Chih-Kai Chang; Sunny T Lee; Daniela Fiore; Regan-Heng Zhang; Anuradha Natarajan; Sergei A Nedospasov; Fabio M V Rossi
Journal:  Nat Med       Date:  2015-06-08       Impact factor: 53.440

7.  Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene.

Authors:  Lauren Snider; Linda N Geng; Richard J L F Lemmers; Michael Kyba; Carol B Ware; Angelique M Nelson; Rabi Tawil; Galina N Filippova; Silvère M van der Maarel; Stephen J Tapscott; Daniel G Miller
Journal:  PLoS Genet       Date:  2010-10-28       Impact factor: 5.917

8.  Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration.

Authors:  Barbara H Janssen; Nicoline B M Voet; Christine I Nabuurs; Hermien E Kan; Jacky W J de Rooy; Alexander C Geurts; George W Padberg; Baziel G M van Engelen; Arend Heerschap
Journal:  PLoS One       Date:  2014-01-14       Impact factor: 3.240

9.  DUX4-induced dsRNA and MYC mRNA stabilization activate apoptotic pathways in human cell models of facioscapulohumeral dystrophy.

Authors:  Sean C Shadle; Jun Wen Zhong; Amy E Campbell; Melissa L Conerly; Sujatha Jagannathan; Chao-Jen Wong; Timothy D Morello; Silvère M van der Maarel; Stephen J Tapscott
Journal:  PLoS Genet       Date:  2017-03-08       Impact factor: 5.917

10.  Dynamics of cellular states of fibro-adipogenic progenitors during myogenesis and muscular dystrophy.

Authors:  Barbora Malecova; Sole Gatto; Usue Etxaniz; Magda Passafaro; Amy Cortez; Chiara Nicoletti; Lorenzo Giordani; Alessio Torcinaro; Marco De Bardi; Silvio Bicciato; Francesca De Santa; Luca Madaro; Pier Lorenzo Puri
Journal:  Nat Commun       Date:  2018-09-10       Impact factor: 14.919

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  2 in total

Review 1.  Role of fibro-adipogenic progenitor cells in muscle atrophy and musculoskeletal diseases.

Authors:  Emily Parker; Mark W Hamrick
Journal:  Curr Opin Pharmacol       Date:  2021-04-08       Impact factor: 4.768

2.  Membrane Repair Deficit in Facioscapulohumeral Muscular Dystrophy.

Authors:  Adam J Bittel; Sen Chandra Sreetama; Daniel C Bittel; Adam Horn; James S Novak; Toshifumi Yokota; Aiping Zhang; Rika Maruyama; Kenji Rowel Q Lim; Jyoti K Jaiswal; Yi-Wen Chen
Journal:  Int J Mol Sci       Date:  2020-08-04       Impact factor: 5.923

  2 in total

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