Articles

Development of a high-throughput screen to identify small molecule enhancers of sarcospan for the treatment of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is caused by loss of sarcolemma connection to the extracellular matrix. Transgenic overexpression of the transmembrane protein sarcospan (SSPN) in the DMD mdx mouse model signifi...

Authors: Cynthia Shu, Ariana N. Kaxon-Rupp, Judd R. Collado, Robert Damoiseaux and Rachelle H. Crosbie

miR-1/206 downregulates splicing factor Srsf9 to promote C2C12 differentiation

Myogenesis is driven by specific changes in the transcriptome that occur during the different stages of muscle differentiation. In addition to controlled transcriptional transitions, several other post-transcr...

Authors: Kristen K. Bjorkman, Massimo Buvoli, Emily K. Pugach, Michael M. Polmear and Leslie A. Leinwand

mTORC2 affects the maintenance of the muscle stem cell pool

The mammalian target of rapamycin complex 2 (mTORC2), containing the essential protein rictor, regulates cellular metabolism and cytoskeletal organization by phosphorylating protein kinases, such as PKB/Akt, P...

Authors: Nathalie Rion, Perrine Castets, Shuo Lin, Leonie Enderle, Judith R. Reinhard and Markus A. Rüegg

In memoriam: Susan Abmayr (1956–2019) – “What do we do? Whatever it takes!”

Authors: Erika R. Geisbrecht and Mary K. Baylies

Two functional variants at 6p21.1 were associated with lean mass

Low lean body mass is the most important predictor of sarcopenia with strong genetic background. The aim of this study was to uncover genetic factors underlying lean mass development.

Authors: Yu-Fang Pei, Wen-Zhu Hu, Xiao-Lin Yang, Xin-Tong Wei, Gui-Juan Feng, Hong Zhang, Hui Shen, Qing Tian, Hong-Wen Deng and Lei Zhang

Barium chloride injures myofibers through calcium-induced proteolysis with fragmentation of motor nerves and microvessels

Local injection of BaCl₂ is an established model of acute injury to study the regeneration of skeletal muscle. However, the mechanism by which BaCl₂ causes muscle injury is unresolved. Because Ba²⁺ inhibits K⁺ ch...

Authors: Aaron B. Morton, Charles E. Norton, Nicole L. Jacobsen, Charmain A. Fernando, D. D. W. Cornelison and Steven S. Segal

LIM and cysteine-rich domains 1 (LMCD1) regulates skeletal muscle hypertrophy, calcium handling, and force

Skeletal muscle mass and strength are crucial determinants of health. Muscle mass loss is associated with weakness, fatigue, and insulin resistance. In fact, it is predicted that controlling muscle atrophy can...

Authors: Duarte M. S. Ferreira, Arthur J. Cheng, Leandro Z. Agudelo, Igor Cervenka, Thomas Chaillou, Jorge C. Correia, Margareta Porsmyr-Palmertz, Manizheh Izadi, Alicia Hansson, Vicente Martínez-Redondo, Paula Valente-Silva, Amanda T. Pettersson-Klein, Jennifer L. Estall, Matthew M. Robinson, K. Sreekumaran Nair, Johanna T. Lanner…

Defective angiogenesis in CXCL12 mutant mice impairs skeletal muscle regeneration

During muscle regeneration, the chemokine CXCL12 (SDF-1) and the synthesis of some specific heparan sulfates (HS) have been shown to be critical. CXCL12 activity has been shown to be heavily influenced by its ...

Authors: David Hardy, Mylène Fefeu, Aurore Besnard, David Briand, Paméla Gasse, Fernando Arenzana-Seisdedos, Pierre Rocheteau and Fabrice Chrétien

Immunohistochemical phenotyping of T cells, granulocytes, and phagocytes in the muscle of cancer patients: association with radiologically defined muscle mass and gene expression

Inflammation is a recognized contributor to muscle wasting. Research in injury and myopathy suggests that interactions between the skeletal muscle and immune cells confer a pro-inflammatory environment that in...

Authors: Ana Anoveros-Barrera, Amritpal S. Bhullar, Cynthia Stretch, Abha R. Dunichand-Hoedl, Karen J. B. Martins, Aja Rieger, David Bigam, Todd McMullen, Oliver F. Bathe, Charles T. Putman, Catherine J. Field, Vickie E. Baracos and Vera C. Mazurak

Ibuprofen inhibited migration of skeletal muscle cells in association with downregulation of p130cas and CrkII expressions

Nonsteroidal anti-inflammatory drugs (NSAIDs) are commonly used to treat sports-related muscle injuries. However, NSAIDs were recently shown to impede the muscle healing process after acute injury. Migration o...

Authors: Chih-Hao Liao, Li-Ping Lin, Tung-Yang Yu, Chih-Chin Hsu, Jong-Hwei S. Pang and Wen-Chung Tsai

miR-146a deficiency does not aggravate muscular dystrophy in mdx mice

Duchenne muscular dystrophy (DMD) is a genetic disease evoked by a mutation in the dystrophin gene. It is associated with progressive muscle degeneration and increased inflammation. Up to this date, mainly ant...

Authors: Iwona Bronisz-Budzyńska, Katarzyna Chwalenia, Olga Mucha, Paulina Podkalicka, Karolina-Bukowska-Strakova, Alicja Józkowicz, Agnieszka Łoboda, Magdalena Kozakowska and Józef Dulak

NAD+ improves neuromuscular development in a zebrafish model of FKRP-associated dystroglycanopathy

Secondary dystroglycanopathies are muscular dystrophies that result from mutations in genes that participate in Dystroglycan glycosylation. Glycosylation of Dystroglycan is essential for muscle fibers to adher...

Authors: Erin C. Bailey, Sarah S. Alrowaished, Elisabeth A. Kilroy, Emma S. Crooks, Daisy M. Drinkert, Chaya M. Karunasiri, Joseph J. Belanger, Andre Khalil, Joshua B. Kelley and Clarissa A. Henry

Estrogen signaling effects on muscle-specific immune responses through controlling the recruitment and function of macrophages and T cells

Estrogen signaling is indispensable for muscle regeneration, yet the role of estrogen in the development of muscle inflammation, especially in the intramuscular T cell response, and the influence on the intrin...

Authors: Zhao Hong Liao, Tao Huang, Jiang Wei Xiao, Rui Cai Gu, Jun Ouyang, Gang Wu and Hua Liao

Regulation of murine skeletal muscle growth by STAT5B is age- and sex-specific

Sexually dimorphic growth has been attributed to the growth hormone (GH)/insulin-like growth factor 1 (IGF1) axis, particularly GH-induced activation of the intracellular signal transducer and activator of tra...

Authors: Ryan G. Paul, Alex S. Hennebry, Marianne S. Elston, John V. Conaglen and Chris D. McMahon

Muscle injury-induced hypoxia alters the proliferation and differentiation potentials of muscle resident stromal cells

Trauma-induced heterotopic ossification (HO) is a complication that develops under three conditions: the presence of an osteogenic progenitor cell, an inducing factor, and a permissive environment. We previous...

Authors: Geneviève Drouin, Vanessa Couture, Marc-Antoine Lauzon, Frédéric Balg, Nathalie Faucheux and Guillaume Grenier

Culturing C2C12 myotubes on micromolded gelatin hydrogels accelerates myotube maturation

Skeletal muscle contributes to roughly 40% of lean body mass, and its loss contributes to morbidity and mortality in a variety of pathogenic conditions. Significant insights into muscle function have been made...

Authors: Lance T. Denes, Lance A. Riley, Joseph R. Mijares, Juan D. Arboleda, Kendra McKee, Karyn A. Esser and Eric T. Wang

A GDF11/myostatin inhibitor, GDF11 propeptide-Fc, increases skeletal muscle mass and improves muscle strength in dystrophic mdx mice

Growth differentiation factor 11 (GDF11) is a member of the transforming growth factor β superfamily. The GDF11 propeptide, which is derived from the GDF11 precursor protein, blocks the activity of GDF11 and i...

Authors: Quan Jin, Chunping Qiao, Jianbin Li, Bin Xiao, Juan Li and Xiao Xiao

Automated image-analysis method for the quantification of fiber morphometry and fiber type population in human skeletal muscle

The quantitative analysis of muscle histomorphometry has been growing in importance in both research and clinical settings. Accurate and stringent assessment of myofibers’ changes in size and number, and alter...

Authors: Perla C. Reyes-Fernandez, Baptiste Periou, Xavier Decrouy, Fréderic Relaix and François Jérôme Authier

Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation

Myopalladin (MYPN) is a component of the sarcomere that tethers nebulin in skeletal muscle and nebulette in cardiac muscle to alpha-actinin at the Z lines. Autosomal dominant MYPN mutations cause hypertrophic, di...

Authors: Luciano Merlini, Patrizia Sabatelli, Manuela Antoniel, Valeria Carinci, Fabio Niro, Giuseppe Monetti, Annalaura Torella, Teresa Giugliano, Cesare Faldini and Vincenzo Nigro

Targeted ablation of the cellular inhibitor of apoptosis 1 (cIAP1) attenuates denervation-induced skeletal muscle atrophy

Skeletal muscle atrophy is a pathological condition that contributes to morbidity in a variety of conditions including denervation, cachexia, and aging. Muscle atrophy is characterized as decreased muscle fibe...

Authors: Neena Lala-Tabbert, Rim Lejmi-Mrad, Kristen Timusk, Marina Fukano, Janelle Holbrook, Martine St-Jean, Eric C. LaCasse and Robert G. Korneluk

Preclinical rationale for entinostat in embryonal rhabdomyosarcoma

Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in the pediatric cancer population. Survival among metastatic RMS patients has remained dismal yet unimproved for years. We previously identified t...

Authors: Narendra Bharathy, Noah E. Berlow, Eric Wang, Jinu Abraham, Teagan P. Settelmeyer, Jody E. Hooper, Matthew N. Svalina, Zia Bajwa, Martin W. Goros, Brian S. Hernandez, Johannes E. Wolff, Ranadip Pal, Angela M. Davies, Arya Ashok, Darnell Bushby, Maria Mancini…

Exogenous expression of the glycosyltransferase LARGE1 restores α-dystroglycan matriglycan and laminin binding in rhabdomyosarcoma

α-Dystroglycan is the highly glycosylated component of the dystrophin-glycoprotein complex (DGC) that binds with high-affinity to extracellular matrix (ECM) proteins containing laminin-G-like (LG) domains via ...

Authors: Daniel Beltrán, Mary E. Anderson, Narendra Bharathy, Teagan P. Settelmeyer, Matthew N. Svalina, Zia Bajwa, John F. Shern, Sakir H. Gultekin, Marco A. Cuellar, Takahiro Yonekawa, Charles Keller and Kevin P. Campbell

Muscle Gene Sets: a versatile methodological aid to functional genomics in the neuromuscular field

The approach of building large collections of gene sets and then systematically testing hypotheses across these collections is a powerful tool in functional genomics, both in the pathway analysis of omics data...

Authors: Apostolos Malatras, Stephanie Duguez and William Duddy

RNA-sequencing reveals altered skeletal muscle contraction, E3 ligases, autophagy, apoptosis, and chaperone expression in patients with critical illness myopathy

Critical illness myopathy (CIM) is associated with severe skeletal muscle wasting and impaired function in intensive care unit (ICU) patients. The mechanisms underlying CIM remain incompletely understood. To e...

Authors: Monica Llano-Diez, Wen Fury, Haruka Okamoto, Yu Bai, Jesper Gromada and Lars Larsson

IMB0901 inhibits muscle atrophy induced by cancer cachexia through MSTN signaling pathway

Cancer cachexia as a metabolic syndrome can lead to at least 25% of cancer deaths. The inhibition of muscle atrophy is a main strategy to treat cancer cachexia. In this process, myostatin (MSTN) can exert a du...

Authors: Dong Liu, Xinran Qiao, Zhijuan Ge, Yue Shang, Yi Li, Wendie Wang, Minghua Chen, Shuyi Si and Shu-zhen Chen

The ancient sarcomeric myosins found in specialized muscles

Striated muscles express an array of sarcomeric myosin motors that are tuned to accomplish specific tasks. Each myosin isoform found in muscle fibers confers unique contractile properties to the fiber in order...

Authors: Lindsey A. Lee, Anastasia Karabina, Lindsey J. Broadwell and Leslie A. Leinwand

Normal inflammation and regeneration of muscle following injury require osteopontin from both muscle and non-muscle cells

Osteopontin is secreted by skeletal muscle myoblasts and macrophages, and its expression is upregulated in muscle following injury. Osteopontin is present in many different structural forms, which vary in thei...

Authors: Dimuthu K. Wasgewatte Wijesinghe, Eleanor J. Mackie and Charles N. Pagel

Late-onset megaconial myopathy in mice lacking group I Paks

Group I Paks are serine/threonine kinases that function as major effectors of the small GTPases Rac1 and Cdc42, and they regulate cytoskeletal dynamics, cell polarity, and transcription. We previously demonstr...

Authors: Giselle A. Joseph, Margaret Hung, Aviva J. Goel, Mingi Hong, Marysia-Kolbe Rieder, Noam D. Beckmann, Madhavika N. Serasinghe, Jerry E. Chipuk, Parvathi M. Devarakonda, David J. Goldhamer, Paulina Aldana-Hernandez, Jonathan Curtis, René L. Jacobs and Robert S. Krauss

Dilated cardiomyopathy-mediated heart failure induces a unique skeletal muscle myopathy with inflammation

Skeletal muscle myopathy and exercise intolerance are diagnostic hallmarks of heart failure (HF). However, the molecular adaptations of skeletal muscles during dilated cardiomyopathy (DCM)-mediated HF are not ...

Authors: Taejeong Song, Palanikumar Manoharan, Douglas P. Millay, Sheryl E. Koch, Jack Rubinstein, Judith A. Heiny and Sakthivel Sadayappan

Metabolic derangements of skeletal muscle from a murine model of glioma cachexia

Cachexia is a complex metabolic disorder and muscle atrophy syndrome, impacting 80% patients with advanced cancers. Malignant glioma is considered to be one of the deadliest human cancers, accounting for about...

Authors: Pengfei Cui, Wei Shao, Caihua Huang, Chang-Jer Wu, Bin Jiang and Donghai Lin

Open-CSAM, a new tool for semi-automated analysis of myofiber cross-sectional area in regenerating adult skeletal muscle

Adult skeletal muscle is capable of complete regeneration after an acute injury. The main parameter studied to assess muscle regeneration efficacy is the cross-sectional area (CSA) of the myofibers as myofiber...

Authors: Thibaut Desgeorges, Sophie Liot, Solene Lyon, Jessica Bouvière, Alix Kemmel, Aurélie Trignol, David Rousseau, Bruno Chapuis, Julien Gondin, Rémi Mounier, Bénédicte Chazaud and Gaëtan Juban

Defects in sarcolemma repair and skeletal muscle function after injury in a mouse model of Niemann-Pick type A/B disease

Niemann-Pick disease type A (NPDA), a disease caused by mutations in acid sphingomyelinase (ASM), involves severe neurodegeneration and early death. Intracellular lipid accumulation and plasma membrane alterat...

Authors: V. Michailowsky, H. Li, B. Mittra, S. R. Iyer, D. A. G. Mazála, M. Corrotte, Y. Wang, E. R. Chin, R. M. Lovering and N. W. Andrews

β-arrestin 1 regulates β2-adrenergic receptor-mediated skeletal muscle hypertrophy and contractility

β₂-adrenergic receptors (β₂ARs) are the target of catecholamines and play fundamental roles in cardiovascular, pulmonary, and skeletal muscle physiology. An important action of β₂AR stimulation on skeletal muscle...

Authors: Jihee Kim, Chad A. Grotegut, James W. Wisler, Tianyu Li, Lan Mao, Minyong Chen, Wei Chen, Paul B. Rosenberg, Howard A. Rockman and Robert J. Lefkowitz

Correction to: HIF prolyl hydroxylase inhibition protects skeletal muscle from eccentric contraction induced injury

Following publication of the original article [1], the authors flagged that there is a discrepancy with the Availability of data and materials statement on page 12 of the article.

Authors: Andrew N. Billin, Samuel E. Honeycutt, Alan V. McDougal, Jaclyn P. Kerr, Zhe Chen, Johannes M. Freudenberg, Deepak K. Rajpal, Guizhen Luo, Henning Fritz Kramer, Robert S. Geske, Frank Fang, Bert Yao, Richard V. Clark, John Lepore, Alex Cobitz, Ram Miller…

The RNA-binding proteins Zfp36l1 and Zfp36l2 act redundantly in myogenesis

Members of the ZFP36 family of RNA-binding proteins regulate gene expression post-transcriptionally by binding to AU-rich elements in the 3’UTR of mRNA and stimulating mRNA degradation. The proteins within thi...

Authors: Hema Bye-A-Jee, Dhamayanthi Pugazhendhi, Samuel Woodhouse, Patrick Brien, Rachel Watson, Martin Turner and Jennifer Pell

Dystrophin R16/17-syntrophin PDZ fusion protein restores sarcolemmal nNOSμ

Loss of sarcolemmal nNOSμ is a common manifestation in a wide variety of muscle diseases and contributes to the dysregulation of multiple muscle activities. Given the critical role sarcolemmal nNOSμ plays in m...

Authors: Aman Patel, Junling Zhao, Yongping Yue, Keqing Zhang, Dongsheng Duan and Yi Lai

HIF prolyl hydroxylase inhibition protects skeletal muscle from eccentric contraction-induced injury

In muscular dystrophy and old age, skeletal muscle repair is compromised leading to fibrosis and fatty tissue accumulation. Therefore, therapies that protect skeletal muscle or enhance repair would be valuable...

Authors: Andrew N. Billin, Samuel E. Honeycutt, Alan V. McDougal, Jaclyn P. Kerr, Zhe Chen, Johannes M. Freudenberg, Deepak K. Rajpal, Guizhen Luo, Henning Fritz Kramer, Robert S. Geske, Frank Fang, Bert Yao, Richard V. Clark, John Lepore, Alex Cobitz, Ram Miller…

Myostatin and activin blockade by engineered follistatin results in hypertrophy and improves dystrophic pathology in mdx mouse more than myostatin blockade alone

Myostatin antagonists are being developed as therapies for Duchenne muscular dystrophy due to their strong hypertrophic effects on skeletal muscle. Engineered follistatin has the potential to combine the hyper...

Authors: Andrea Iskenderian, Nan Liu, Qingwei Deng, Yan Huang, Chuan Shen, Kathleen Palmieri, Robert Crooker, Dianna Lundberg, Niksa Kastrapeli, Brian Pescatore, Alla Romashko, John Dumas, Robert Comeau, Angela Norton, Jing Pan, Haojing Rong…

A novel tetracycline-responsive transgenic mouse strain for skeletal muscle-specific gene expression

The tetracycline-responsive system (Tet-ON/OFF) has proven to be a valuable tool for manipulating gene expression in an inducible, temporal, and tissue-specific manner. The purpose of this study was to create ...

Authors: Masahiro Iwata, Davis A. Englund, Yuan Wen, Cory M. Dungan, Kevin A. Murach, Ivan J. Vechetti Jr, Christopher B. Mobley, Charlotte A. Peterson and John J. McCarthy

Automated muscle histopathology analysis using CellProfiler

Histological assessment of skeletal muscle sections is important for the research of muscle physiology and diseases. Quantifiable measures of skeletal muscle often include mean fiber diameter, fiber size distr...

Authors: Yeh Siang Lau, Li Xu, Yandi Gao and Renzhi Han

Muscle membrane integrity in Duchenne muscular dystrophy: recent advances in copolymer-based muscle membrane stabilizers

The scientific premise, design, and structure-function analysis of chemical-based muscle membrane stabilizing block copolymers are reviewed here for applications in striated muscle membrane injury. Synthetic b...

Authors: Evelyne M. Houang, Yuk Y. Sham, Frank S. Bates and Joseph M. Metzger

Deletion of the microtubule-associated protein 6 (MAP6) results in skeletal muscle dysfunction

The skeletal muscle fiber has a specific and precise intracellular organization which is at the basis of an efficient muscle contraction. Microtubules are long known to play a major role in the function and or...

Authors: Muriel Sébastien, Benoit Giannesini, Perrine Aubin, Julie Brocard, Mathilde Chivet, Laura Pietrangelo, Simona Boncompagni, Christophe Bosc, Jacques Brocard, John Rendu, Sylvie Gory-Fauré, Annie Andrieux, Anne Fourest-Lieuvin, Julien Fauré and Isabelle Marty

The effects of neuregulin-1β on intrafusal muscle fiber formation in neuromuscular coculture of dorsal root ganglion explants and skeletal muscle cells

The formation of intrafusal muscle (IM) fibers and their contact with afferent proprioceptive axons is critical for construction, function, and maintenance of the stretch reflex. Many factors affect the format...

Authors: Yuan Qiao, Menglin Cong, Jianmin Li, Hao Li and Zhenzhong Li

Biochemical and pathological changes result from mutated Caveolin-3 in muscle

Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathie...

Authors: José Andrés González Coraspe, Joachim Weis, Mary E. Anderson, Ute Münchberg, Kristina Lorenz, Stephan Buchkremer, Stephanie Carr, René Peiman Zahedi, Eva Brauers, Hannah Michels, Yoshihide Sunada, Hanns Lochmüller, Kevin P. Campbell, Erik Freier, Denisa Hathazi and Andreas Roos

A robust Pax7EGFP mouse that enables the visualization of dynamic behaviors of muscle stem cells

Pax7 is a transcription factor involved in the specification and maintenance of muscle stem cells (MuSCs). Upon injury, MuSCs leave their quiescent state, downregulate Pax7 and differentiate, contributing to s...

Authors: Elisia D. Tichy, David K. Sidibe, Christopher D. Greer, Nicholas M. Oyster, Panteleimon Rompolas, Nadia A. Rosenthal, Helen M. Blau and Foteini Mourkioti

Visualization of PAX7 protein dynamics in muscle satellite cells in a YFP knock-in-mouse line

Satellite cells are residential muscle stem cells that express a paired box protein, PAX7.

Authors: Yasuo Kitajima and Yusuke Ono

MuscleJ: a high-content analysis method to study skeletal muscle with a new Fiji tool

Skeletal muscle has the capacity to adapt to environmental changes and regenerate upon injury. To study these processes, most experimental methods use quantification of parameters obtained from images of immun...

Authors: Alicia Mayeuf-Louchart, David Hardy, Quentin Thorel, Pascal Roux, Lorna Gueniot, David Briand, Aurélien Mazeraud, Adrien Bouglé, Spencer L. Shorte, Bart Staels, Fabrice Chrétien, Hélène Duez and Anne Danckaert

Identification of SMCHD1 domains for nuclear localization, homo-dimerization, and protein cleavage

SMCHD1 is a disease modifier and a causative gene for facioscapulohumeral muscular dystrophy (FSHD) type 1 and type 2, respectively. A large variety of different mutations in SMCHD1 have been identified as cau...

Authors: Yosuke Hiramuki and Stephen J. Tapscott

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that are typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with...

Authors: Katherine Johnson, Marta Bertoli, Lauren Phillips, Ana Töpf, Peter Van den Bergh, John Vissing, Nanna Witting, Shahriar Nafissi, Shirin Jamal-Omidi, Anna Łusakowska, Anna Kostera-Pruszczyk, Anna Potulska-Chromik, Nicolas Deconinck, Carina Wallgren-Pettersson, Sonja Strang-Karlsson, Jaume Colomer…

Whole-body clearing, staining and screening of calcium deposits in the mdx mouse model of Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a fatal, X-linked genetic disorder. Although DMD is the most common form of muscular dystrophy, only two FDA-approved drugs were developed to delay its progression. In orde...

Authors: Lukasz Bozycki, Kacper Łukasiewicz, Paweł Matryba and Slawomir Pikula