Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis an... (Source: Skeletal Muscle)
Source: Skeletal Muscle - November 16, 2020 Category: Research Authors: Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. B önnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur and Robert T. Dirksen Tags: Review Source Type: research
MyoSight —semi-automated image analysis of skeletal muscle cross sections
Manual analysis of cross-sectional area, fiber-type distribution, and total and centralized nuclei in skeletal muscle cross sections is tedious and time consuming, necessitating an accurate, automated method o... (Source: Skeletal Muscle)
Source: Skeletal Muscle - November 16, 2020 Category: Research Authors: Lyle W. Babcock, Amy D. Hanna, Nadia H. Agha and Susan L. Hamilton Tags: Research Source Type: research
In remembrance of David Yaffe
(Source: Skeletal Muscle)
Source: Skeletal Muscle - October 24, 2020 Category: Research Authors: Margaret Buckingham and Eldad Tzahor Tags: Obituary Source Type: research
Complementary NAD+ replacement strategies fail to functionally protect dystrophin-deficient muscle
Duchenne muscular dystrophy (DMD) is a progressive muscle wasting disorder stemming from a loss of functional dystrophin. Current therapeutic options for DMD are limited, as small molecule modalities remain la... (Source: Skeletal Muscle)
Source: Skeletal Muscle - October 22, 2020 Category: Research Authors: David W. Frederick, Alan V. McDougal, Melisa Semenas, Johanna Vappiani, Andrea Nuzzo, John C. Ulrich, J. David Becherer, Frank Preugschat, Eugene L. Stewart, Daniel C. S évin and H. Fritz Kramer Tags: Research Source Type: research
A novel chemical-combination screen in zebrafish identifies epigenetic small molecule candidates for the treatment of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder and is one of the most common muscular dystrophies. There are currently few effective therapies to treat the disease, although many small-mo... (Source: Skeletal Muscle)
Source: Skeletal Muscle - October 15, 2020 Category: Research Authors: Gist H. Farr III, Melanie Morris, Arianna Gomez, Thao Pham, Elisabeth Kilroy, Elizabeth U. Parker, Shery Said, Clarissa Henry and Lisa Maves Tags: Research Source Type: research
Pro-myogenic small molecules revealed by a chemical screen on primary muscle stem cells
Satellite cells are the canonical muscle stem cells that regenerate damaged skeletal muscle. Loss of function of these cells has been linked to reduced muscle repair capacity and compromised muscle health in a... (Source: Skeletal Muscle)
Source: Skeletal Muscle - October 9, 2020 Category: Research Authors: Sean M. Buchanan, Feodor D. Price, Alessandra Castiglioni, Amanda Wagner Gee, Joel Schneider, Mark N. Matyas, Monica Hayhurst, Mohammadsharif Tabebordbar, Amy J. Wagers and Lee L. Rubin Tags: Research Source Type: research
Dnmt3b regulates DUX4 expression in a tissue-dependent manner in transgenic D4Z4 mice
Facioscapulohumeral muscular dystrophy (FSHD) is a skeletal muscle disorder that is caused by derepression of the transcription factor DUX4 in skeletal muscle cells. Apart from SMCHD1, DNMT3B was recently iden... (Source: Skeletal Muscle)
Source: Skeletal Muscle - October 1, 2020 Category: Research Authors: Linde F. Bouwman, Bianca den Hamer, Elwin P. Verveer, Lente J. S. Lerink, Yvonne D. Krom, Silv ère M. van der Maarel and Jessica C. de Greef Tags: Research Source Type: research
High-throughput screening identifies modulators of sarcospan that stabilize muscle cells and exhibit activity in the mouse model of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a degenerative muscle disease caused by mutations in the dystrophin gene. Loss of dystrophin prevents the formation of a critical connection between the muscle cell membran... (Source: Skeletal Muscle)
Source: Skeletal Muscle - September 18, 2020 Category: Research Authors: Cynthia Shu, Liubov Parfenova, Ekaterina Mokhonova, Judd R. Collado, Robert Damoiseaux, Jesus Campagna, Varghese John and Rachelle H. Crosbie Tags: Research Source Type: research
Exercise enhances mitochondrial fission and mitophagy to improve myopathy following critical limb ischemia in elderly mice via the PGC1a/FNDC5/irisin pathway
Elderly populations are susceptible to critical limb ischemia (CLI), but conventional treatments cannot significantly decrease amputation and mortality. Although exercise is an effective “non-pharmacological m... (Source: Skeletal Muscle)
Source: Skeletal Muscle - September 15, 2020 Category: Research Authors: Wuyang He, Peng Wang, Qingwei Chen and Chunqiu Li Tags: Research Source Type: research
Drosophila myosin mutants model the disparate severity of type 1 and type 2B distal arthrogryposis and indicate an enhanced actin affinity mechanism
Distal arthrogryposis (DA) is a group of autosomal dominant skeletal muscle diseases characterized by congenital contractures of distal limb joints. The most common cause of DA is a mutation of the embryonic m... (Source: Skeletal Muscle)
Source: Skeletal Muscle - August 15, 2020 Category: Research Authors: Yiming Guo, William A. Kronert, Karen H. Hsu, Alice Huang, Floyd Sarsoza, Kaylyn M. Bell, Jennifer A. Suggs, Douglas M. Swank and Sanford I. Bernstein Tags: Research Source Type: research
X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterisation
Canine models of Duchenne muscular dystrophy (DMD) are a valuable tool to evaluate potential therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been describ... (Source: Skeletal Muscle)
Source: Skeletal Muscle - August 7, 2020 Category: Research Authors: In ès Barthélémy, Nadège Calmels, Robert B. Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzón, Luis Garcia, Jean-Claude Tags: Research Source Type: research
The ties that bind: functional clusters in limb-girdle muscular dystrophy
The limb-girdle muscular dystrophies (LGMDs) are a genetically pleiomorphic class of inherited muscle diseases that are known to share phenotypic features. Selected LGMD genetic subtypes have been studied exte... (Source: Skeletal Muscle)
Source: Skeletal Muscle - July 29, 2020 Category: Research Authors: Elisabeth R. Barton, Christina A. Pacak, Whitney L. Stoppel and Peter B. Kang Tags: Review Source Type: research
Exercise promotes satellite cell contribution to myofibers in a load-dependent manner
Satellite cells (SCs) are required for muscle repair following injury and are involved in muscle remodeling upon muscular contractions. Exercise stimulates SC accumulation and myonuclear accretion. To what ext... (Source: Skeletal Muscle)
Source: Skeletal Muscle - July 9, 2020 Category: Research Authors: Evi Masschelein, Gommaar D ’Hulst, Joel Zvick, Laura Hinte, Inés Soro-Arnaiz, Tatiane Gorski, Ferdinand von Meyenn, Ori Bar-Nur and Katrien De Bock Tags: Research Source Type: research
Optimized method for extraction of exosomes from human primary muscle cells
Skeletal muscle is increasingly considered an endocrine organ secreting myokines and extracellular vesicles (exosomes and microvesicles), which can affect physiological changes with an impact on different path... (Source: Skeletal Muscle)
Source: Skeletal Muscle - July 8, 2020 Category: Research Authors: Laura Le Gall, Zamalou Gisele Ouandaogo, Ekene Anakor, Owen Connolly, Gillian Butler Browne, Jeanne Laine, William Duddy and Stephanie Duguez Tags: Methodology Source Type: research
A reference single-cell transcriptomic atlas of human skeletal muscle tissue reveals bifurcated muscle stem cell populations
Single-cell RNA-sequencing (scRNA-seq) facilitates the unbiased reconstruction of multicellular tissue systems in health and disease. Here, we present a curated scRNA-seq dataset of human muscle samples from 1... (Source: Skeletal Muscle)
Source: Skeletal Muscle - July 6, 2020 Category: Research Authors: Andrea J. De Micheli, Jason A. Spector, Olivier Elemento and Benjamin D. Cosgrove Tags: Research Source Type: research
