Articles

Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations

Nemaline myopathy (NM) is a rare genetic muscle disorder, but one of the most common among the congenital myopathies. NM is caused by mutations in at least nine genes: Nebulin (NEB), α-actin (ACTA1), α-tropomyosi...

Authors: Minttu Marttila, Mubashir Hanif, Elina Lemola, Kristen J Nowak, Jenni Laitila, Mikaela Grönholm, Carina Wallgren-Pettersson and Katarina Pelin

Dysregulation of matricellular proteins is an early signature of pathology in laminin-deficient muscular dystrophy

MDC1A is a congenital neuromuscular disorder with developmentally complex and progressive pathologies that results from a deficiency in the protein laminin α₂. MDC1A is associated with a multitude of pathologies,...

Authors: Thomas Mehuron, Ajay Kumar, Lina Duarte, Jenny Yamauchi, Anthony Accorsi and Mahasweta Girgenrath

Absence of γ-sarcoglycan alters the response of p70S6 kinase to mechanical perturbation in murine skeletal muscle

The dystrophin glycoprotein complex (DGC) is located at the sarcolemma of muscle fibers, providing structural integrity. Mutations in and loss of DGC proteins cause a spectrum of muscular dystrophies. When onl...

Authors: Catherine Moorwood, Anastassios Philippou, Janelle Spinazzola, Benjamin Keyser, Edward J Macarak and Elisabeth R Barton

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

Although the pathophysiology of facioscapulohumeral dystrophy (FSHD) has been controversial over the last decades, progress in recent years has led to a model that incorporates these decades of findings and is...

Authors: Rabi Tawil, Silvère M van der Maarel and Stephen J Tapscott

Kelch proteins: emerging roles in skeletal muscle development and diseases

Our understanding of genes that cause skeletal muscle disease has increased tremendously over the past three decades. Advances in approaches to genetics and genomics have aided in the identification of new pat...

Authors: Vandana A Gupta and Alan H Beggs

Myofiber branching rather than myofiber hyperplasia contributes to muscle hypertrophy in mdx mice

Muscle hypertrophy in the mdx mouse model of Duchenne muscular dystrophy (DMD) can partially compensate for the loss of dystrophin by maintaining peak force production. Histopathology examination of the hypertrop...

Authors: Rachel M Faber, John K Hall, Jeffrey S Chamberlain and Glen B Banks

Incidence and severity of myofiber branching with regeneration and aging

Myofibers with an abnormal branching cytoarchitecture are commonly found in muscular dystrophy and in regenerated or aged nondystrophic muscles. Such branched myofibers from dystrophic mice are more susceptibl...

Authors: Christophe Pichavant and Grace K Pavlath

Long noncoding RNAs, emerging players in muscle differentiation and disease

The vast majority of the mammalian genome is transcribed giving rise to many different types of noncoding RNAs. Among them, long noncoding RNAs are the most numerous and functionally versatile class. Indeed, t...

Authors: Maria Victoria Neguembor, Mathivanan Jothi and Davide Gabellini

Andrographolide attenuates skeletal muscle dystrophy in mdx mice and increases efficiency of cell therapy by reducing fibrosis

Duchenne muscular dystrophy (DMD) is characterized by the absence of the cytoskeletal protein dystrophin, muscle wasting, increased transforming growth factor type beta (TGF-β) signaling, and fibrosis. At the ...

Authors: Daniel Cabrera, Jaime Gutiérrez, Claudio Cabello-Verrugio, Maria Gabriela Morales, Sergio Mezzano, Ricardo Fadic, Juan Carlos Casar, Juan L Hancke and Enrique Brandan

Glypican-1 regulates myoblast response to HGF via Met in a lipid raft-dependent mechanism: effect on migration of skeletal muscle precursor cells

Via the hepatocyte growth factor receptor (Met), hepatocyte growth factor (HGF) exerts key roles involving skeletal muscle development and regeneration. Heparan sulfate proteoglycans (HSPGs) are critical modul...

Authors: Jaime Gutiérrez, Daniel Cabrera and Enrique Brandan

High-throughput screening identifies inhibitors of DUX4-induced myoblast toxicity

Facioscapulohumeral muscular dystrophy (FSHD) is caused by epigenetic alterations at the D4Z4 macrosatellite repeat locus on chromosome 4, resulting in inappropriate expression of the DUX4 protein. The DUX4 pr...

Authors: Darko Bosnakovski, Si Ho Choi, Jessica M Strasser, Erik A Toso, Michael A Walters and Michael Kyba

Skeletal muscle’s 3rd year anniversary

Authors: David J Glass, Kevin P Campbell and Michael A Rudnicki

Post-natal induction of PGC-1α protects against severe muscle dystrophy independently of utrophin

Duchenne muscle dystrophy (DMD) afflicts 1 million boys in the US and has few effective treatments. Constitutive transgenic expression of the transcriptional coactivator peroxisome proliferator-activated recep...

Authors: Mun Chun Chan, Glenn C Rowe, Srilatha Raghuram, Ian S Patten, Caitlin Farrell and Zolt Arany

Atypical behavior of NFATc1 in cultured intercostal myofibers

The NFATc transcription factor family is responsible for coupling cytoplasmic calcium signals to transcription programs in a wide variety of cell types. In skeletal muscle, these transcription factors control ...

Authors: Patrick Robison, Erick O Hernández-Ochoa and Martin F Schneider

BMP-9 expression in human traumatic heterotopic ossification: a case report

Heterotopic ossification (HO) is defined as the abnormal formation of mature bone in soft tissue, notably skeletal muscle. The morbidity of HO in polytraumatized patients impacts the functional outcome, impair...

Authors: Guillaume Grenier, Élisabeth Leblanc, Nathalie Faucheux, Dominique Lauzier, Peter Kloen and Reggie C Hamdy

Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research

Congenital muscular dystrophy Type 1A (MDC1A) is a severe, recessive disease of childhood onset that is caused by mutations in the LAMA2 gene encoding laminin-α2. Studies with both mouse models and primary cultur...

Authors: Soonsang Yoon, Guido Stadler, Mary Lou Beermann, Eric V Schmidt, James A Windelborn, Peter Schneiderat, Woodring E Wright and Jeffrey Boone Miller

Rb1 loss modifies but does not initiate alveolar rhabdomyosarcoma

Alveolar rhabdomyosarcoma (aRMS) is a myogenic childhood sarcoma frequently associated with a translocation-mediated fusion gene, Pax3:Foxo1a.

Authors: Ken Kikuchi, Eri Taniguchi, Hung-I Harry Chen, Matthew N Svalina, Jinu Abraham, Elaine T Huang, Koichi Nishijo, Sean Davis, Christopher Louden, Lee Ann Zarzabal, Olivia Recht, Ayeza Bajwa, Noah Berlow, Mònica Suelves, Sherrie L Perkins, Paul S Meltzer…

Genome-wide binding of the basic helix-loop-helix myogenic inhibitor musculin has substantial overlap with MyoD: implications for buffering activity

Musculin (MSC) is a basic helix-loop-helix transcription factor that inhibits myogenesis during normal development and contributes to the differentiation defect in rhabdomyosarcoma. As one of many transcriptio...

Authors: Kyle L MacQuarrie, Zizhen Yao, Abraham P Fong and Stephen J Tapscott

MG53′s new identity

Mitsugumin 53 (MG53) is a relatively newly identified tripartite motif-containing (TRIM) family muscle-specific E3 ubiquitin ligase that is expressed in skeletal muscle and the heart. It has been postulated to...

Authors: Jennifer R Levy, Kevin P Campbell and David J Glass

Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy

The childhood neuromuscular disease spinal muscular atrophy (SMA) is caused by mutations or deletions of the survival motor neuron (SMN1) gene. Although SMA has traditionally been considered a motor neuron diseas...

Authors: Justin G Boyer, Lyndsay M Murray, Kyle Scott, Yves De Repentigny, Jean-Marc Renaud and Rashmi Kothary

Control of mRNA stability contributes to low levels of nuclear poly(A) binding protein 1 (PABPN1) in skeletal muscle

The nuclear poly(A) binding protein 1 (PABPN1) is a ubiquitously expressed proteinthat plays critical roles at multiple steps in post-transcriptional regulation ofgene expression. Short expansions of the polya...

Authors: Luciano H Apponi, Anita H Corbett and Grace K Pavlath

Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin

Statins are widely used drugs for the treatment of hyperlipidemia. Though relatively safe, some individuals taking statins experience rhabdymyolysis, muscle pain, and cramping, a condition termed statin-induce...

Authors: Mark Knoblauch, Adan Dagnino-Acosta and Susan L Hamilton

Murine Fig4 is dispensable for muscle development but required for muscle function

Phosphatidylinositol phosphates (PIPs) are low-abundance phospholipids that participate in a range of cellular processes, including cell migration and membrane traffic. PIP levels and subcellular distribution ...

Authors: Aaron Reifler, Guy M Lenk, Xingli Li, Linda Groom, Susan V Brooks, Desmond Wilson, Michyla Bowerson, Robert T Dirksen, Miriam H Meisler and James J Dowling

Increased sphingosine-1-phosphate improves muscle regeneration in acutely injured mdx mice

Presently, there is no effective treatment for the lethal muscle wasting disease Duchenne muscular dystrophy (DMD). Here we show that increased sphingosine-1-phoshate (S1P) through direct injection or via the ...

Authors: Nicholas Ieronimakis, Mario Pantoja, Aislinn L Hays, Timothy L Dosey, Junlin Qi, Karin A Fischer, Andrew N Hoofnagle, Martin Sadilek, Jeffrey S Chamberlain, Hannele Ruohola-Baker and Morayma Reyes

Measuring microRNA reporter activity in skeletal muscle using hydrodynamic limb vein injection of plasmid DNA combined with in vivo imaging

microRNA regulation plays an important role in the remodeling that occurs in response to pathologic and physiologic stimuli in skeletal muscle. In response to stress, microRNAs are dynamically regulated, resul...

Authors: Martin G Guess, Kristen KB Barthel, Emily K Pugach and Leslie A Leinwand

Retraction Note: MyoD-dependent regulation of NF-κB activity couples cell-cycle withdrawal to myogenic differentiation

Authors: Maura H Parker, Julia von Maltzahn, Nadine Bakkar, Ban Al-Joubori, Jeff Ishibashi, Denis Guttridge and Michael A Rudnicki

TWEAK promotes exercise intolerance by decreasing skeletal muscle oxidative phosphorylation capacity

Proinflammatory cytokine tumor necrosis factor (TNF)-like weak inducer of apoptosis (TWEAK) and its receptor Fn14 are the major regulators of skeletal muscle mass in many catabolic conditions. However, their r...

Authors: Shuichi Sato, Yuji Ogura, Vivek Mishra, Jonghyun Shin, Shephali Bhatnagar, Bradford G Hill and Ashok Kumar

Inhibition of extracellular signal-regulated kinase 1/2 signaling has beneficial effects on skeletal muscle in a mouse model of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutation

Autosomal Emery-Dreifuss muscular dystrophy is caused by mutations in the lamin A/C gene (LMNA) encoding A-type nuclear lamins, intermediate filament proteins of the nuclear envelope. Classically, the disease man...

Authors: Antoine Muchir, Young Jin Kim, Sarah A Reilly, Wei Wu, Jason C Choi and Howard J Worman

Distinct roles for Ste20-like kinase SLK in muscle function and regeneration

Cell growth and terminal differentiation are controlled by complex signaling systems that regulate the tissue-specific expression of genes controlling cell fate and morphogenesis. We have previously reported t...

Authors: Christopher J Storbeck, Khalid N Al-Zahrani, Roshan Sriram, Sarah Kawesa, Paul O’Reilly, Kate Daniel, Marlene McKay, Rashmi Kothary, Catherine Tsilfidis and Luc A Sabourin

Linking cytoarchitecture to metabolism: sarcolemma-associated plectin affects glucose uptake by destabilizing microtubule networks in mdx myofibers

Duchenne muscular dystrophy (DMD) is one of the most frequent forms of muscular disorders. It is caused by the absence of dystrophin, a core component of the sarcolemma-associated junctional complex that links...

Authors: Marianne Raith, Rocio G Valencia, Irmgard Fischer, Michael Orthofer, Josef M Penninger, Simone Spuler, Günther A Rezniczek and Gerhard Wiche

Idiopathic inflammatory myopathies: pathogenic mechanisms of muscle weakness

Idiopathic inflammatory myopathies (IIMs) are a heterogenous group of complex muscle diseases of unknown etiology. These diseases are characterized by progressive muscle weakness and damage, together with invo...

Authors: Sree Rayavarapu, William Coley, Travis B Kinder and Kanneboyina Nagaraju

Bone marrow derived cells in adult skeletal muscle tissue in humans

During the past decade, several animal studies have demonstrated that in addition to local cells, cells from the bone marrow (BM) possess the ability to contribute to regeneration of injured skeletal muscle ti...

Authors: Anna Strömberg, Monika Jansson, Helene Fischer, Eric Rullman, Hans Hägglund and Thomas Gustafsson

Trip12, a HECT domain E3 ubiquitin ligase, targets Sox6 for proteasomal degradation and affects fiber type-specific gene expression in muscle cells

A sophisticated level of coordinated gene expression is necessary for skeletal muscle fibers to obtain their unique functional identities. We have previously shown that the transcription factor Sox6 plays an e...

Authors: Chung-Il An, Edward Ganio and Nobuko Hagiwara

Live cell imaging reveals marked variability in myoblast proliferation and fate

During the process of muscle regeneration, activated stem cells termed satellite cells proliferate, and then differentiate to form new myofibers that restore the injured area. Yet not all satellite cells contr...

Authors: Sean M Gross and Peter Rotwein

Vascular-targeted therapies for Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy and an X-linked recessive, progressive muscle wasting disease caused by the absence of a functional dystrophin protein. Dystrophin has a ...

Authors: James P Ennen, Mayank Verma and Atsushi Asakura

Comparison of endogenous and overexpressed MyoD shows enhanced binding of physiologically bound sites

Transcription factor overexpression is common in biological experiments and transcription factor amplification is associated with many cancers, yet few studies have directly compared the DNA-binding profiles o...

Authors: Zizhen Yao, Abraham P Fong, Yi Cao, Walter L Ruzzo, Robert C Gentleman and Stephen J Tapscott

Krüppel-like factor 6 (KLF6) promotes cell proliferation in skeletal myoblasts in response to TGFβ/Smad3 signaling

Krüppel-like factor 6 (KLF6) has been recently identified as a MEF2D target gene involved in neuronal cell survival. In addition, KLF6 and TGFβ have been shown to regulate each other’s expression in non-myogen...

Authors: Mathew G Dionyssiou, Jahan Salma, Mariya Bevzyuk, Stephanie Wales, Lusine Zakharyan and John C McDermott

Differential response of skeletal muscles to mTORC1 signaling during atrophy and hypertrophy

Skeletal muscle mass is determined by the balance between protein synthesis and degradation. Mammalian target of rapamycin complex 1 (mTORC1) is a master regulator of protein translation and has been implicate...

Authors: C Florian Bentzinger, Shuo Lin, Klaas Romanino, Perrine Castets, Maitea Guridi, Serge Summermatter, Christoph Handschin, Lionel A Tintignac, Michael N Hall and Markus A Rüegg

Canonical Wnt signaling induces BMP-4 to specify slow myofibrogenesis of fetal myoblasts

The Wnts are secreted proteins that play important roles in skeletal myogenesis, muscle fiber type diversification, neuromuscular junction formation and muscle stem cell function. How Wnt proteins orchestrate ...

Authors: Kazuki Kuroda, Shihuan Kuang, Makoto M Taketo and Michael A Rudnicki

Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy

The clinical features of myofibrillar myopathies display a wide phenotypic heterogeneity. To this date, no studies have evaluated this parameter due to the absence of pertinent animal models. By studying two m...

Authors: Pierre Joanne, Oussama Chourbagi, Christophe Hourdé, Arnaud Ferry, Gillian Butler-Browne, Patrick Vicart, Julie Dumonceaux and Onnik Agbulut

A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome

The complexity of the skeletal muscle and the identification of numerous human disease-causing mutations in its constitutive proteins make it an interesting tissue for proteomic studies aimed at understanding ...

Authors: Gaëlle Blandin, Sylvie Marchand, Karine Charton, Nathalie Danièle, Evelyne Gicquel, Jean-Baptiste Boucheteil, Azéddine Bentaib, Laetitia Barrault, Daniel Stockholm, Marc Bartoli and Isabelle Richard

Satellite cell therapy – from mice to men

Satellite cells are rare mononuclear skeletal muscle-resident cells that are the chief contributors to regenerative myogenesis following muscle injury. Although first identified more than 50 years ago, it is o...

Authors: Akshay Bareja and Andrew N Billin

Sarcospan: a small protein with large potential for Duchenne muscular dystrophy

Purification of the proteins associated with dystrophin, the gene product responsible for Duchenne muscular dystrophy, led to the discovery of the dystrophin-glycoprotein complex. Sarcospan, a 25-kDa transmemb...

Authors: Jamie L Marshall and Rachelle H Crosbie-Watson

The superhealing MRL background improves muscular dystrophy

Mice from the MRL or “superhealing” strain have enhanced repair after acute injury to the skin, cornea, and heart. We now tested an admixture of the MRL genome and found that it altered the course of muscle pa...

Authors: Ahlke Heydemann, Kayleigh A Swaggart, Gene H Kim, Jenan Holley-Cuthrell, Michele Hadhazy and Elizabeth M McNally

Alveolar rhabdomyosarcoma – The molecular drivers of PAX3/7-FOXO1-induced tumorigenesis

Rhabdomyosarcoma is a soft tissue sarcoma arising from cells of a mesenchymal or skeletal muscle lineage. Alveolar rhabdomyosarcoma (ARMS) is more aggressive than the more common embryonal (ERMS) subtype. ARMS...

Authors: Amy D Marshall and Gerard C Grosveld

Injectable polyethylene glycol-fibrinogen hydrogel adjuvant improves survival and differentiation of transplanted mesoangioblasts in acute and chronic skeletal-muscle degeneration

Cell-transplantation therapies have attracted attention as treatments for skeletal-muscle disorders; however, such research has been severely limited by poor cell survival. Tissue engineering offers a potentia...

Authors: Claudia Fuoco, Maria Lavinia Salvatori, Antonella Biondo, Keren Shapira-Schweitzer, Sabrina Santoleri, Stefania Antonini, Sergio Bernardini, Francesco Saverio Tedesco, Stefano Cannata, Dror Seliktar, Giulio Cossu and Cesare Gargioli

Implications for the mammalian sialidases in the physiopathology of skeletal muscle

The family of mammalian sialidases is composed of four distinct versatile enzymes that remove negatively charged terminal sialic acid residues from gangliosides and glycoproteins in different subcellular areas...

Authors: Alessandro Fanzani, Alessandra Zanola, Fiorella Faggi, Nadia Papini, Bruno Venerando, Guido Tettamanti, Maurilio Sampaolesi and Eugenio Monti

Erratum to: Inducible Cre transgenic mouse strain for skeletal muscle-specific gene targeting

Authors: John J McCarthy, Ratchakrit Srikuea, Tyler J Kirby, Charlotte A Peterson and Karyn A Esser

A role for RNA post-transcriptional regulation in satellite cell activation

Satellite cells are resident skeletal muscle stem cells responsible for muscle maintenance and repair. In resting muscle, satellite cells are maintained in a quiescent state. Satellite cell activation induces ...

Authors: Nicholas H Farina, Melissa Hausburg, NicoleDalla Betta, Crystal Pulliam, Deepak Srivastava, DDW Cornelison and Bradley B Olwin

p38β MAPK upregulates atrogin1/MAFbx by specific phosphorylation of C/EBPβ

The p38 mitogen-activated protein kinases (MAPK) family plays pivotal roles in skeletal muscle metabolism. Recent evidence revealed that p38α and p38β exert paradoxical effects on muscle protein homeostasis. H...

Authors: Guohua Zhang and Yi-Ping Li