Articles

Skeletal, cardiac, and respiratory muscle function and histopathology in the P448Lneo− mouse model of FKRP-deficient muscular dystrophy

Fukutin-related protein (FKRP) mutations are the most common cause of dystroglycanopathies known to cause both limb girdle and congenital muscular dystrophy. The P448Lneo− mouse model has a knock-in mutation in t...

Authors: Qing Yu, Melissa Morales, Ning Li, Alexander G. Fritz, Ren Ruobing, Anthony Blaeser, Ershia Francois, Qi-Long Lu, Kanneboyina Nagaraju and Christopher F. Spurney

An RNAi based screen in Drosophila larvae identifies fascin as a regulator of myoblast fusion and myotendinous junction structure

A strength of Drosophila as a model system is its utility as a tool to screen for novel regulators of various functional and developmental processes. However, the utility of Drosophila as a screening tool is depe...

Authors: Jaclyn M. Camuglia, Torrey R. Mandigo, Richard Moschella, Jenna Mark, Christine H. Hudson, Derek Sheen and Eric S. Folker

The complexity of titin splicing pattern in human adult skeletal muscles

Mutations in the titin gene (TTN) cause a large spectrum of diseases affecting skeletal and/or cardiac muscle. TTN includes 363 coding exons, a repeated region with a high degree of complexity, isoform-specific e...

Authors: Marco Savarese, Per Harald Jonson, Sanna Huovinen, Lars Paulin, Petri Auvinen, Bjarne Udd and Peter Hackman

Role of Parkin and endurance training on mitochondrial turnover in skeletal muscle

Parkin is a ubiquitin ligase that is involved in the selective removal of dysfunctional mitochondria. This process is termed mitophagy and can assist in mitochondrial quality control. Endurance training can pr...

Authors: Chris Chin Wah Chen, Avigail T. Erlich and David A. Hood

A need for NAD+ in muscle development, homeostasis, and aging

Skeletal muscle enables posture, breathing, and locomotion. Skeletal muscle also impacts systemic processes such as metabolism, thermoregulation, and immunity. Skeletal muscle is energetically expensive and is...

Authors: Michelle F. Goody and Clarissa A. Henry

Diversification of the muscle proteome through alternative splicing

Skeletal muscles express a highly specialized proteome that allows the metabolism of energy sources to mediate myofiber contraction. This muscle-specific proteome is partially derived through the muscle-specif...

Authors: Kiran Nakka, Claudia Ghigna, Davide Gabellini and F. Jeffrey Dilworth

A missense mutation in MYH1 is associated with susceptibility to immune-mediated myositis in Quarter Horses

The cause of immune-mediated myositis (IMM), characterized by recurrent, rapid-onset muscle atrophy in Quarter Horses (QH), is unknown. The histopathologic hallmark of IMM is lymphocytic infiltration of myofib...

Authors: Carrie J. Finno, Giuliana Gianino, Sudeep Perumbakkam, Zoë J. Williams, Matthew H. Bordbari, Keri L. Gardner, Erin Burns, Sichong Peng, Sian A. Durward-Akhurst and Stephanie J. Valberg

HDAC4 preserves skeletal muscle structure following long-term denervation by mediating distinct cellular responses

Denervation triggers numerous molecular responses in skeletal muscle, including the activation of catabolic pathways and oxidative stress, leading to progressive muscle atrophy. Histone deacetylase 4 (HDAC4) m...

Authors: Eva Pigna, Alessandra Renzini, Emanuela Greco, Elena Simonazzi, Stefania Fulle, Rosa Mancinelli, Viviana Moresi and Sergio Adamo

Nilotinib impairs skeletal myogenesis by increasing myoblast proliferation

Tyrosine kinase inhibitors (TKIs) are effective therapies with demonstrated antineoplastic activity. Nilotinib is a second-generation FDA-approved TKI designed to overcome Imatinib resistance and intolerance i...

Authors: Osvaldo Contreras, Maximiliano Villarreal and Enrique Brandan

A novel in vitro model for the assessment of postnatal myonuclear accretion

Due to the post-mitotic nature of myonuclei, postnatal myogenesis is essential for skeletal muscle growth, repair, and regeneration. This process is facilitated by satellite cells through proliferation, differ...

Authors: Anita Kneppers, Lex Verdijk, Chiel de Theije, Mark Corten, Ellis Gielen, Luc van Loon, Annemie Schols and Ramon Langen

Myoblast fusion confusion: the resolution begins

The fusion of muscle precursor cells is a required event for proper skeletal muscle development and regeneration. Numerous proteins have been implicated to function in myoblast fusion; however, the majority ar...

Authors: Srihari C. Sampath, Srinath C. Sampath and Douglas P. Millay

Overexpression of the double homeodomain protein DUX4c interferes with myofibrillogenesis and induces clustering of myonuclei

Facioscapulohumeral muscular dystrophy (FSHD) is associated with DNA hypomethylation at the 4q35 D4Z4 repeat array. Both the causal gene DUX4 and its homolog DUX4c are induced. DUX4c is immunodetected in every my...

Authors: Céline Vanderplanck, Alexandra Tassin, Eugénie Ansseau, Sébastien Charron, Armelle Wauters, Céline Lancelot, Kelly Vancutsem, Dalila Laoudj-Chenivesse, Alexandra Belayew and Frédérique Coppée

Development of the excitation-contraction coupling machinery and its relation to myofibrillogenesis in human iPSC-derived skeletal myocytes

Human induced pluripotent stem cells-derived myogenic progenitors develop functional and ultrastructural features typical of skeletal muscle when differentiated in culture. Besides disease-modeling, such a sys...

Authors: Jeanne Lainé, Gunnar Skoglund, Emmanuel Fournier and Nacira Tabti

Low-intensity pulsed ultrasound prevents muscle atrophy induced by type 1 diabetes in rats

Type 1 diabetes mellitus (T1DM) induces serious skeletal muscle atrophy. Low-intensity pulsed ultrasound (LIPUS) is a common treatment for skeletal muscle injury and is effective in accelerating the rate of mu...

Authors: Liang Tang, Nan Li, Wenqi Jian, Yiting Kang, Bo Yin, Shuxin Sun, Jianzhong Guo, Lijun Sun and Dean Ta

Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Skeletal muscle satellite (stem) cells are quiescent in adult mice and can undergo multiple rounds of proliferation and self-renewal following muscle injury. Several labs have profiled transcripts of myogenic ...

Authors: Natalia Pietrosemoli, Sébastien Mella, Siham Yennek, Meryem B. Baghdadi, Hiroshi Sakai, Ramkumar Sambasivan, Francesca Pala, Daniela Di Girolamo and Shahragim Tajbakhsh

Impaired regeneration in calpain-3 null muscle is associated with perturbations in mTORC1 signaling and defective mitochondrial biogenesis

Previous studies in patients with limb-girdle muscular dystrophy type 2A (LGMD2A) have suggested that calpain-3 (CAPN3) mutations result in aberrant regeneration in muscle.

Authors: Mehmet E. Yalvac, Jakkrit Amornvit, Cilwyn Braganza, Lei Chen, Syed-Rehan A. Hussain, Kimberly M. Shontz, Chrystal L. Montgomery, Kevin M. Flanigan, Sarah Lewis and Zarife Sahenk

Are mice good models for human neuromuscular disease? Comparing muscle excursions in walking between mice and humans

The mouse is one of the most widely used animal models to study neuromuscular diseases and test new therapeutic strategies. However, findings from successful pre-clinical studies using mouse models frequently ...

Authors: Xiao Hu, James P. Charles, Turgay Akay, John R. Hutchinson and Silvia S. Blemker

A mouse anti-myostatin antibody increases muscle mass and improves muscle strength and contractility in the mdx mouse model of Duchenne muscular dystrophy and its humanized equivalent, domagrozumab (PF-06252616), increases muscle volume in cynomolgus monkeys

The treatments currently approved for Duchenne muscular dystrophy (DMD), a progressive skeletal muscle wasting disease, address the needs of only a small proportion of patients resulting in an urgent need for ...

Authors: Michael St. Andre, Mark Johnson, Prashant N. Bansal, Jeremy Wellen, Andrew Robertson, Alan Opsahl, Peter M. Burch, Peter Bialek, Carl Morris and Jane Owens

The breaking and making of healthy adult human skeletal muscle in vivo

While muscle regeneration has been extensively studied in animal and cell culture models, in vivo myogenesis in adult human skeletal muscle has not been investigated in detail.

Authors: Abigail L. Mackey and Michael Kjaer

Treatment with the anti-IL-6 receptor antibody attenuates muscular dystrophy via promoting skeletal muscle regeneration in dystrophin-/utrophin-deficient mice

Chronic increases in the levels of the inflammatory cytokine interleukin-6 (IL-6) in serum and skeletal muscle are thought to contribute to the progression of muscular dystrophy. Dystrophin/utrophin double-kno...

Authors: Eiji Wada, Jun Tanihata, Akira Iwamura, Shin’ichi Takeda, Yukiko K. Hayashi and Ryoichi Matsuda

Utrophin influences mitochondrial pathology and oxidative stress in dystrophic muscle

Duchenne muscular dystrophy (DMD) is a lethal X-linked muscle wasting disorder caused by the absence of dystrophin, a large cytoskeletal muscle protein. Increasing the levels of the dystrophin-related-protein ...

Authors: Tahnee L. Kennedy, Lee Moir, Sarah Hemming, Ben Edwards, Sarah Squire, Kay Davies and Simon Guiraud

Loss of MKP-5 promotes myofiber survival by activating STAT3/Bcl-2 signaling during regenerative myogenesis

The mitogen-activated protein kinases (MAPKs) have been shown to be involved in regulating myofiber survival. In skeletal muscle, p38 MAPK and JNK are negatively regulated by MAPK phosphatase-5 (MKP-5). During...

Authors: Kisuk Min, Ahmed Lawan and Anton M. Bennett

HGF potentiates extracellular matrix-driven migration of human myoblasts: involvement of matrix metalloproteinases and MAPK/ERK pathway

The hepatocyte growth factor (HGF) is required for the activation of muscle progenitor cells called satellite cells (SC), plays a role in the migration of proliferating SC (myoblasts), and is present as a solu...

Authors: Mariela Natacha González, Wallace de Mello, Gillian S. Butler-Browne, Suse Dayse Silva-Barbosa, Vincent Mouly, Wilson Savino and Ingo Riederer

Increased plasma lipid levels exacerbate muscle pathology in the mdx mouse model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by loss of dystrophin expression and leads to severe ambulatory and cardiac function decline. However, the dystrophin-deficient mdx murine model of DMD only develops a ...

Authors: Nadia Milad, Zoe White, Arash Y. Tehrani, Stephanie Sellers, Fabio M.V. Rossi and Pascal Bernatchez

Fragile X mental retardation protein regulates skeletal muscle stem cell activity by regulating the stability of Myf5 mRNA

Regeneration of adult tissues relies on adult stem cells that are primed to enter a differentiation program, while typically remaining quiescent. In mouse skeletal muscle, these features are reconciled by mult...

Authors: Ryo Fujita, Victoria Zismanov, Jean-Marie Jacob, Solène Jamet, Krum Asiev and Colin Crist

Mice overexpressing growth hormone exhibit increased skeletal muscle myostatin and MuRF1 with attenuation of muscle mass

In contrast to the acute effects of growth hormone (GH) on skeletal muscle protein synthesis, long-term GH treatment appears to have negligible effects on muscle mass. Despite this knowledge, little is known r...

Authors: Leslie A. Consitt, Alicson Saneda, Gunjan Saxena, Edward O. List and John J. Kopchick

BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells

Facioscapulohumeral dystrophy (FSHD) is a progressive muscle disease caused by mutations that lead to epigenetic derepression and inappropriate transcription of the double homeobox 4 (DUX4) gene in skeletal muscl...

Authors: Amy E. Campbell, Jonathan Oliva, Matthew P. Yates, Jun Wen Zhong, Sean C. Shadle, Lauren Snider, Nikita Singh, Shannon Tai, Yosuke Hiramuki, Rabi Tawil, Silvère M. van der Maarel, Stephen J. Tapscott and Francis M. Sverdrup

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Limb-girdle muscular dystrophies (LGMDs) are a heterogeneous group of inherited autosomal myopathies that preferentially affect voluntary muscles of the shoulders and hips. LGMD has been clinically described i...

Authors: Melissa L. Cox, Jacquelyn M. Evans, Alexander G. Davis, Ling T. Guo, Jennifer R. Levy, Alison N. Starr-Moss, Elina Salmela, Marjo K. Hytönen, Hannes Lohi, Kevin P. Campbell, Leigh Anne Clark and G. Diane Shelton

Differential requirement for satellite cells during overload-induced muscle hypertrophy in growing versus mature mice

Pax7+ satellite cells are required for skeletal muscle fiber growth during post-natal development in mice. Satellite cell-mediated myonuclear accretion also appears to persist into early adulthood. Given the i...

Authors: Kevin A. Murach, Sarah H. White, Yuan Wen, Angel Ho, Esther E. Dupont-Versteegden, John J. McCarthy and Charlotte A. Peterson

Expression patterns of FSHD-causing DUX4 and myogenic transcription factors PAX3 and PAX7 are spatially distinct in differentiating human stem cell cultures

Facioscapulohumeral muscular dystrophy (FSHD) is most commonly inherited in an autosomal dominant pattern and caused by the abnormal expression of DUX4 in skeletal muscle. The DUX4 transcription factor has DNA...

Authors: Premi Haynes, Kelly Kernan, Suk-Lin Zhou and Daniel G. Miller

SMCHD1 regulates a limited set of gene clusters on autosomal chromosomes

Facioscapulohumeral muscular dystrophy (FSHD) is in most cases caused by a contraction of the D4Z4 macrosatellite repeat on chromosome 4 (FSHD1) or by mutations in the SMCHD1 or DNMT3B gene (FSHD2). Both situatio...

Authors: Amanda G. Mason, Roderick C. Slieker, Judit Balog, Richard J. L. F. Lemmers, Chao-Jen Wong, Zizhen Yao, Jong-Won Lim, Galina N. Filippova, Enrico Ne, Rabi Tawil, Bas T. Heijmans, Stephen J. Tapscott and Silvère M. van der Maarel

Nanospan, an alternatively spliced isoform of sarcospan, localizes to the sarcoplasmic reticulum in skeletal muscle and is absent in limb girdle muscular dystrophy 2F

Sarcospan (SSPN) is a transmembrane protein that interacts with the sarcoglycans (SGs) to form a tight subcomplex within the dystrophin-glycoprotein complex that spans the sarcolemma and interacts with laminin...

Authors: Angela K. Peter, Gaynor Miller, Joana Capote, Marino DiFranco, Alhondra Solares-Pérez, Emily L. Wang, Jim Heighway, Ramón M. Coral-Vázquez, Julio Vergara and Rachelle H. Crosbie-Watson

Complement C5a-C5aR1 signalling drives skeletal muscle macrophage recruitment in the hSOD1^G93A mouse model of amyotrophic lateral sclerosis

The terminal pathway of the innate immune complement system is implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS). Terminal complement activation leads to generation of C5a, which through it...

Authors: Haitao A. Wang, John D. Lee, Kah Meng Lee, Trent M. Woodruff and Peter G. Noakes

The golden retriever model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in the DMD gene and loss of the protein dystrophin. The absence of dystrophin leads to myofiber membrane fragility and necrosis, with e...

Authors: Joe N. Kornegay

Unexpected evolutionarily conserved rapid effects of viral infection on oxytocin receptor and TGF-β/pSmad3

shRNA lentiviral vectors are extensively used for gene knockdowns in mammalian cells, and non-target shRNAs typically are considered the proper experimental control for general changes caused by RNAi. However,...

Authors: Yutong Liu and Irina Conboy

Retinoid acid-induced microRNA-31-5p suppresses myogenic proliferation and differentiation by targeting CamkIIδ

We previously reported that Wnt5a/CaMKIIδ (calcium/calmodulin-dependent protein kinase II delta) pathway was involved in the embryonic tongue deformity induced by excess retinoic acid (RA). Our latest study fo...

Authors: Bo Liu, Chao Liu, Wei Cong, Nan Li, Nan Zhou, Yi Tang, Chao Wei, Han Bai, Ying Zhang and Jing Xiao

Absence of physiological Ca²⁺ transients is an initial trigger for mitochondrial dysfunction in skeletal muscle following denervation

Motor neurons control muscle contraction by initiating action potentials in muscle. Denervation of muscle from motor neurons leads to muscle atrophy, which is linked to mitochondrial dysfunction. It is known t...

Authors: Chehade Karam, Jianxun Yi, Yajuan Xiao, Kamal Dhakal, Lin Zhang, Xuejun Li, Carlo Manno, Jiejia Xu, Kaitao Li, Heping Cheng, Jianjie Ma and Jingsong Zhou

Linkages between changes in the 3D organization of the genome and transcription during myotube differentiation in vitro

The spatial organization of eukaryotic genomes facilitates and reflects the underlying nuclear processes that are occurring in the cell. As such, the spatial organization of a genome represents a window on the...

Authors: Malina D. Doynova, James F. Markworth, David Cameron-Smith, Mark H. Vickers and Justin M. O’Sullivan

Erratum to: Voluntary resistance wheel exercise from mid-life prevents sarcopenia and increases markers of mitochondrial function and autophagy in muscles of old male and female C57BL/6J mice

Authors: Zoe White, Jessica Terrill, Robert B. White, Christopher McMahon, Phillip Sheard, Miranda D. Grounds and Tea Shavlakadze

Deletion of the Ste20-like kinase SLK in skeletal muscle results in a progressive myopathy and muscle weakness

The Ste20-like kinase, SLK, plays an important role in cell proliferation and cytoskeletal remodeling. In fibroblasts, SLK has been shown to respond to FAK/Src signaling and regulate focal adhesion turnover th...

Authors: Benjamin R. Pryce, Khalid N. Al-Zahrani, Sébastien Dufresne, Natalya Belkina, Cédrik Labrèche, Genaro Patino-Lopez, Jérôme Frenette, Stephen Shaw and Luc A. Sabourin

Inhibition of Stat3 signaling ameliorates atrophy of the soleus muscles in mice lacking the vitamin D receptor

Although skeletal muscle wasting has long been observed as a clinical outcome of impaired vitamin D signaling, precise molecular mechanisms that mediate the loss of muscle mass in the absence of vitamin D sign...

Authors: Suchitra D. Gopinath

A novel method for the quantification of fatty infiltration in skeletal muscle

Fatty infiltration of the skeletal muscle is a common but poorly understood feature of many myopathies. It is best described in human muscle, where non-invasive imaging techniques and representative histology ...

Authors: Nicole K. Biltz and Gretchen A. Meyer

Voluntary resistance wheel exercise from mid-life prevents sarcopenia and increases markers of mitochondrial function and autophagy in muscles of old male and female C57BL/6J mice

There is much interest in the capacity of resistance exercise to prevent the age-related loss of skeletal muscle mass and function, known as sarcopenia. This study investigates the molecular basis underlying t...

Authors: Zoe White, Jessica Terrill, Robert B. White, Christopher McMahon, Phillip Sheard, Miranda D. Grounds and Tea Shavlakadze

Laminin 521 maintains differentiation potential of mouse and human satellite cell-derived myoblasts during long-term culture expansion

Large-scale expansion of myogenic progenitors is necessary to support the development of high-throughput cellular assays in vitro and to advance genetic engineering approaches necessary to develop cellular the...

Authors: Christopher M. Penton, Vasudeo Badarinarayana, Joy Prisco, Elaine Powers, Mark Pincus, Ronald E. Allen and Paul R. August

Skeletal muscle characteristics are preserved in hTERT/cdk4 human myogenic cell lines

hTERT/cdk4 immortalized myogenic human cell lines represent an important tool for skeletal muscle research, being used as therapeutically pertinent models of various neuromuscular disorders and in numerous fun...

Authors: Matthew Thorley, Stéphanie Duguez, Emilia Maria Cristina Mazza, Sara Valsoni, Anne Bigot, Kamel Mamchaoui, Brennan Harmon, Thomas Voit, Vincent Mouly and William Duddy

CCAAT/enhancer binding protein β is required for satellite cell self-renewal

Postnatal growth and repair of skeletal muscle relies upon a population of quiescent muscle precursor cells, called satellite cells that can be activated to proliferate and differentiate into new myofibers, as...

Authors: Neena Lala-Tabbert, Hamood AlSudais, François Marchildon, Dechen Fu and Nadine Wiper-Bergeron

Muscle PGC-1α modulates satellite cell number and proliferation by remodeling the stem cell niche

The myogenic capacity of satellite cells (SCs), adult muscle stem cells, is influenced by aging, exercise, and other factors. In skeletal muscle, the peroxisome proliferator-activated receptor γ coactivator 1α...

Authors: Ivana Dinulovic, Regula Furrer, Markus Beer, Arnaud Ferry, Bettina Cardel and Christoph Handschin

Nuclear bodies reorganize during myogenesis in vitro and are differentially disrupted by expression of FSHD-associated DUX4

Nuclear bodies, such as nucleoli, PML bodies, and SC35 speckles, are dynamic sub-nuclear structures that regulate multiple genetic and epigenetic processes. Additional regulation is provided by RNA/DNA handlin...

Authors: Sachiko Homma, Mary Lou Beermann, Bryant Yu, Frederick M. Boyce and Jeffrey Boone Miller

Heme oxygenase and carbon monoxide protect from muscle dystrophy

Duchenne muscle dystrophy (DMD) is one of the most common lethal genetic diseases of children worldwide and is 100% fatal. Steroids, the only therapy currently available, are marred by poor efficacy and a high...

Authors: Mun Chun Chan, Olivia Ziegler, Laura Liu, Glenn C. Rowe, Saumya Das, Leo E. Otterbein and Zoltan Arany

Established cell surface markers efficiently isolate highly overlapping populations of skeletal muscle satellite cells by fluorescence-activated cell sorting

Fluorescent-activated cell sorting (FACS) has enabled the direct isolation of highly enriched skeletal muscle stem cell, or satellite cell, populations from postnatal tissue. Several distinct surface marker pa...

Authors: Claire C. Maesner, Albert E. Almada and Amy J. Wagers