Shavlakadze, Tea Xiong, Kun Mishra, Shawn McEwen, Corissa Gadi, Abhilash Wakai, Matthew Salmon, Hunter Stec, Michael J. Negron, Nicole Ni, Min
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Published in
Skeletal Muscle
Background As a result of aging, skeletal muscle undergoes atrophy and a decrease in function. This age-related skeletal muscle weakness is known as “sarcopenia”. Sarcopenia is part of the frailty observed in humans. In order to discover treatments for sarcopenia, it is necessary to determine appropriate preclinical models and the genes and signali...
Guan, Yuqing Liang, Xiongda Li, Wei Lin, Wanying Liang, Guanxia Xie, Hongting Hou, Yu Hu, Yafang Shang, Xuan
Published in
Skeletal Muscle
Background Limb-girdle muscular dystrophy R8 (LGMD R8) is a rare autosomal recessive muscle disease caused by TRIM32 gene biallelic defects. The genotype–phenotype correlation of this disease has been reported poorly. Here, we report a Chinese family with two female LGMD R8 patients. Methods We performed whole-genome sequencing (WGS) and Sanger seq...
Hahn, Dongwoo Quick, Joseph D. Thompson, Brian R. Crabtree, Adelyn Hackel, Benjamin J. Bates, Frank S. Metzger, Joseph M.
Published in
Skeletal Muscle
Duchenne muscular dystrophy (DMD) is caused by the lack of dystrophin, a cytoskeletal protein essential for the preservation of the structural integrity of the muscle cell membrane. DMD patients develop severe skeletal muscle weakness, degeneration, and early death. We tested here amphiphilic synthetic membrane stabilizers in mdx skeletal muscle fi...
Witcher, Phillip C Sun, Chengyi Millay, Douglas P
Published in
Skeletal muscle
Skeletal muscle development and regeneration depend on cellular fusion of myogenic progenitors to generate multinucleated myofibers. These progenitors utilize two muscle-specific fusogens, Myomaker and Myomerger, which function by remodeling cell membranes to fuse to each other or to existing myofibers. Myomaker and Myomerger expression is restrict...
Redmond, Anna K Davies, Tilman M Schofield, Matthew R Sheard, Philip W
Published in
Skeletal muscle
The functional and metabolic properties of skeletal muscles are partly a function of the spatial arrangement of fibers across the muscle belly. Many muscles feature a non-uniform spatial pattern of fiber types, and alterations to the arrangement can reflect age or disease and correlate with changes in muscle mass and strength. Despite the significa...
Ismaeel, Ahmed Van Pelt, Douglas W Hettinger, Zachary R Fu, Xu Richards, Christopher I Butterfield, Timothy A Petrocelli, Jonathan J Vechetti, Ivan J Confides, Amy L Drummond, Micah J
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Published in
Skeletal muscle
Skeletal muscle (SkM) is a large, secretory organ that produces and releases myokines that can have autocrine, paracrine, and endocrine effects. Whether extracellular vesicles (EVs) also play a role in the SkM adaptive response and ability to communicate with other tissues is not well understood. The purpose of this study was to investigate EV biog...
Claus, Clothilde Slavin, Moriya Ansseau, Eugénie Lancelot, Céline Bah, Karimatou Lassche, Saskia Fiévet, Manon Greco, Anna Tomaiuolo, Sara Tassin, Alexandra
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Published in
Skeletal muscle
We have previously demonstrated that double homeobox 4 centromeric (DUX4C) encoded for a functional DUX4c protein upregulated in dystrophic skeletal muscles. Based on gain- and loss-of-function studies we have proposed DUX4c involvement in muscle regeneration. Here, we provide further evidence for such a role in skeletal muscles from patients affec...
Schorr, Anna L. Mejia, Alejandro Felix Miranda, Martina Y. Mangone, Marco
Published in
Skeletal Muscle
The body muscle is an important tissue used in organisms for proper viability and locomotion. Although this tissue is generally well studied and characterized, and many pathways have been elucidated throughout the years, we still lack a comprehensive understanding of its transcriptome and how it controls muscle development and function. Here, we ha...
Jacobsen, Nicole L. Morton, Aaron B. Segal, Steven S.
Published in
Skeletal Muscle
Background Acute injury to skeletal muscle damages myofibers and fragment capillaries, impairing contractile function and local perfusion. Myofibers and microvessels regenerate from satellite cells and from surviving microvessel fragments, respectively, to restore intact muscle. Established models of injury have used myotoxins and physical trauma t...
Marques, Jair Shokry, Engy Uhl, Olaf Baber, Lisa Hofmeister, Fabian Jarmusch, Stefanie Bidlingmaier, Martin Ferrari, Uta Koletzko, Berthold Drey, Michael
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Published in
Skeletal Muscle
Background Sarcopenia is one of the most predominant musculoskeletal diseases of the elderly, defined as age-related progressive and generalized loss of muscle mass with a simultaneous reduction in muscle strength and/or function. Using metabolomics, we aimed to examine the association between sarcopenia and the plasma metabolic profile of sarcopen...