Articles

Myocyte enhancer factor 2C function in skeletal muscle is required for normal growth and glucose metabolism in mice

Skeletal muscle is the most abundant tissue in the body and is a major source of total energy expenditure in mammals. Skeletal muscle consists of fast and slow fiber types, which differ in their energy usage, ...

Authors: Courtney M Anderson, Jianxin Hu, Ralston M Barnes, Analeah B Heidt, Ivo Cornelissen and Brian L Black

C-terminal residues of skeletal muscle calsequestrin are essential for calcium binding and for skeletal ryanodine receptor inhibition

Skeletal muscle function depends on calcium signaling proteins in the sarcoplasmic reticulum (SR), including the calcium-binding protein calsequestrin (CSQ), the ryanodine receptor (RyR) calcium release channe...

Authors: Nicole A Beard and Angela F Dulhunty

Increased microenvironment stiffness in damaged myofibers promotes myogenic progenitor cell proliferation

The stiffness of the myogenic stem cell microenvironment markedly influences the ability to regenerate tissue. We studied the effect of damaged myofibers on myogenic progenitor cell (MPC) proliferation and det...

Authors: Frédéric Trensz, Fabrice Lucien, Vanessa Couture, Thomas Söllrald, Geneviève Drouin, André-Jean Rouleau, Michel Grandbois, Gregory Lacraz and Guillaume Grenier

Ca²⁺ permeation and/or binding to Ca_V1.1 fine-tunes skeletal muscle Ca²⁺ signaling to sustain muscle function

Ca²⁺ influx through Ca_V1.1 is not required for skeletal muscle excitation-contraction coupling, but whether Ca²⁺ permeation through Ca_V1.1 during sustained muscle activity plays a functional role in mammalian ske...

Authors: Chang Seok Lee, Adan Dagnino-Acosta, Viktor Yarotskyy, Amy Hanna, Alla Lyfenko, Mark Knoblauch, Dimitra K Georgiou, Ross A Poché, Michael W Swank, Cheng Long, Iskander I Ismailov, Johanna Lanner, Ted Tran, KeKe Dong, George G Rodney, Mary E Dickinson…

A role for Galgt1 in skeletal muscle regeneration

Cell surface glycans are known to play vital roles in muscle membrane stability and muscle disease, but to date, roles for glycans in muscle regeneration have been less well understood. Here, we describe a rol...

Authors: Neha Singhal and Paul T Martin

X-linked myotubular myopathy in Rottweiler dogs is caused by a missense mutation in Exon 11 of the MTM1 gene

Congenital and inherited myopathies in dogs are faithful models of human muscle diseases and are being recognized with increasing frequency. In fact, canine models of dystrophin deficient muscular dystrophy an...

Authors: G Diane Shelton, Branden E Rider, Georgina Child, Sophia Tzannes, Ling T Guo, Behzad Moghadaszadeh, Emily C Troiano, Bianca Haase, Claire M Wade and Alan H Beggs

The role of Sox6 in zebrafish muscle fiber type specification

The transcription factor Sox6 has been implicated in regulating muscle fiber type-specific gene expression in mammals. In zebrafish, loss of function of the transcription factor Prdm1a results in a slow to fas...

Authors: Harriet E Jackson, Yosuke Ono, Xingang Wang, Stone Elworthy, Vincent T Cunliffe and Philip W Ingham

Pax7 is back

Two recent studies have reinvigorated the conversation regarding the role of Pax7 in adult satellite. Studies by Gunther et al (Cell Stem Cell 13: 590–601, 2013) and Von Maltzhen et al (Proc Natl Acad Sci U S A 1...

Authors: Andrew S Brack

The miR-206/133b cluster is dispensable for development, survival and regeneration of skeletal muscle

Three different gene clusters code for the muscle-specific miRNAs miR-206, miR-1 and miR-133a/b. The two miR-1/133a clusters generate identical mature miR-1 and miR-133a miRNAs in heart and skeletal muscle, wh...

Authors: Thomas Boettger, Stas Wüst, Hendrik Nolte and Thomas Braun

Deficient nitric oxide signalling impairs skeletal muscle growth and performance: involvement of mitochondrial dysregulation

Nitric oxide (NO), generated in skeletal muscle mostly by the neuronal NO synthases (nNOSμ), has profound effects on both mitochondrial bioenergetics and muscle development and function. The importance of NO f...

Authors: Clara De Palma, Federica Morisi, Sarah Pambianco, Emma Assi, Thierry Touvier, Stefania Russo, Cristiana Perrotta, Vanina Romanello, Silvia Carnio, Valentina Cappello, Paolo Pellegrino, Claudia Moscheni, Maria Teresa Bassi, Marco Sandri, Davide Cervia and Emilio Clementi

SMASH – semi-automatic muscle analysis using segmentation of histology: a MATLAB application

Histological assessment of skeletal muscle tissue is commonly applied to many areas of skeletal muscle physiological research. Histological parameters including fiber distribution, fiber type, centrally nuclea...

Authors: Lucas R Smith and Elisabeth R Barton

Protein phosphatase 2C-alpha knockdown reduces angiotensin II-mediated skeletal muscle wasting via restoration of mitochondrial recycling and function

Circulating angiotensin II (AngII) is elevated in congestive heart failure (CHF), and leads to skeletal muscle wasting, which is strongly associated with poor patient outcomes. We previously found that AngII u...

Authors: Alexander Michael Tabony, Tadashi Yoshida, Sergiy Sukhanov and Patrice Delafontaine

DUX4 promotes transcription of FRG2 by directly activating its promoter in facioscapulohumeral muscular dystrophy

The most common form of facioscapulohumeral muscular dystrophy (FSHD) is caused by a genetic contraction of the polymorphic D4Z4 macrosatellite repeat array in the subtelomeric region of chromosome 4q. In some...

Authors: Peter E Thijssen, Judit Balog, Zizhen Yao, Tan Phát Pham, Rabi Tawil, Stephen J Tapscott and Silvère M Van der Maarel

NBD delivery improves the disease phenotype of the golden retriever model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene and afflicts skeletal and cardiac muscles. Previous studies showed that DMD is associated with constitutive activation of NF-κB, ...

Authors: Joe N Kornegay, Jennifer M Peterson, Daniel J Bogan, William Kline, Janet R Bogan, Jennifer L Dow, Zheng Fan, Jiahui Wang, Mihye Ahn, Hongtu Zhu, Martin Styner and Denis C Guttridge

Erratum to: dysregulation of matricellular proteins is an early signature of pathology in laminindeficient muscular dystrophy

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

Novel and optimized strategies for inducing fibrosis in vivo: focus on Duchenne Muscular Dystrophy

Fibrosis, an excessive collagen accumulation, results in scar formation, impairing function of vital organs and tissues. Fibrosis is a hallmark of muscular dystrophies, including the lethal Duchenne muscular d...

Authors: Patrizia Pessina, Daniel Cabrera, María Gabriela Morales, Cecilia A Riquelme, Jaime Gutiérrez, Antonio L Serrano, Enrique Brandan and Pura Muñoz-Cánoves

The injury-induced myokine insulin-like 6 is protective in experimental autoimmune myositis

The idiopathic inflammatory myopathies represent a group of autoimmune diseases that are characterized by lymphocyte infiltration of muscle and muscle weakness. Insulin-like 6 (Insl6) is a poorly characterized...

Authors: Ling Zeng, Sonomi Maruyama, Kazuto Nakamura, Jennifer L Parker-Duffen, Ibrahim M Adham, Xuemei Zhong, Han-Kyu Lee, Henry Querfurth and Kenneth Walsh

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

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

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

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