Muscle Physiology and Disorders

Identification of drug modifiers for RYR1 related myopathy using a multi-species discovery pipeline

This study identifies drug modifiers for RYR1-related myopathy using a multi-species pipeline, finding p38 inhibition as a potential therapeutic strategy.

miR-206 knockout shows it is critical for myogenesis and directly regulates newly identified target mRNAs

This study shows miR-206 is critical for myogenesis and identifies new mRNA targets regulated by miR-206 in C2C12 cells.

Myosin Heavy Chain-embryonic is a crucial regulator of skeletal muscle development and differentiation.

This study identifies MyHC-embryonic as essential for skeletal muscle development and differentiation through MAPK and FGF signaling during embryonic and fetal myogenesis.

Evolutionarily conserved regulation of embryonic fast-twitch skeletal muscle differentiation by Pbx factors

This study shows that Pbx factors are essential for embryonic fast-twitch muscle differentiation in both zebrafish and mice, with conserved gene regulation mechanisms.

NOTCH inhibition promotes myoblast fusion by releasing HEYL repression on TMEM8C regulatory regions in foetal skeletal muscles

The paper shows NOTCH inhibition increases TMEM8C expression and myoblast fusion in chicken embryos by releasing HEYL repression on TMEM8C regulatory regions.

ACTN3 genotype influences skeletal muscle mass regulation and response to dexamethasone

This study shows that ACTN3 genotype affects skeletal muscle mass regulation and response to dexamethasone, with -actinin-3 deficiency reducing atrophy signaling and protecting against muscle wasting in female mice.

The long noncoding RNA Meg3 regulates myoblast plasticity and muscle regeneration through epithelial-mesenchymal transition

This study shows that the lncRNA Meg3 regulates myoblast plasticity and muscle regeneration by controlling epithelial-mesenchymal transition.

Drosophila Activin signaling promotes muscle growth through InR/dTORC1 dependent and independent processes

This study shows Drosophila Activin signaling promotes muscle growth by enhancing InR/dTORC1 pathway and MHC levels, with distinct effects on muscle geometry depending on signal balance.

Aging induces aberrant state transition kinetics in murine muscle stem cells

This study finds that aged murine muscle stem cells have delayed activation kinetics but retain a youthful activation trajectory, suggesting changes in state transition dynamics contribute to aging.

Amelioration of muscular dystrophy phenotype in mdx mice by inhibition of Flt1

This study shows that inhibiting Flt1 improves the muscular dystrophy phenotype in mdx mice by increasing vascular density and reducing muscle pathology.

A switch in cilia-mediated Hedgehog signaling controls muscle stem cell quiescence and cell cycle progression

The paper shows that cilia-mediated Hedgehog signaling regulates muscle stem cell quiescence and cell cycle progression by switching from repressive to active states during activation.

Satellite cell depletion in early adulthood attenuates muscular dystrophy pathogenesis

This study shows that depleting satellite cells in dystrophic mice during early adulthood improves muscle function and reduces pathology without compromising muscle size.

Cofilin loss in Drosophila muscles contributes to myopathy through defective sarcomerogenesis

This study shows that loss of Drosophila Cofilin disrupts sarcomere structure and function, leading to myopathy, and that proteasome activation can delay muscle deterioration.

Physical activity improves sarcopenia in a murine model by enhancing the proliferative potential of muscle stem cells, oxidative capacity of mitochondrial enzymes and expression of Sestrins

This study develops a sarcopenic mouse model and shows that physical activity improves muscle mass, stem cell function, mitochondrial capacity, and sestrin expression.

Type IV collagen is essential for proper function of integrin-mediated adhesion in Drosophila muscle fibers

This study investigates the role of Type IV collagen in Drosophila muscle fibers, showing that mutations lead to sarcomere structural defects and integrin-mediated adhesion issues.

Evolutionary loss of foot muscle during development with characteristics of atrophy and no evidence of cell death

The paper investigates the developmental loss of foot muscles in jerboas, finding muscle atrophy without cell death, suggesting evolutionary remodeling through disease-like mechanisms.

DUX4-induced bidirectional HSATII satellite repeat transcripts form intranuclear double stranded RNA foci in human cell models of FSHD

This study identifies DUX4-induced bidirectional HSATII satellite repeat transcripts that form intranuclear dsRNA foci contributing to FSHD toxicity.

Targeted gene correction of FKRP by CRISPR/Cas9 restores functional glycosylation of α-dystroglycan in cortical neurons derived from human induced pluripotent stem cells

This paper corrects FKRP mutations in iPSCs using CRISPR/Cas9, restoring functional glycosylation of α-dystroglycan in cortical neurons and validating the role of FKRP in dystroglycanopathies.

Myo-REG: a portal for signaling interactions in muscle regeneration

Myo-REG integrates and curates molecular interactions and signaling pathways involved in muscle regeneration, providing a web portal for exploring cell-cell and intracellular interactions.

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

This paper develops a single-molecule optical mapping method for quantitative D4Z4 repeat analysis in FSHD, showing concordance with Southern blot and improved haplotype resolution.

Novel model of distal myopathy caused by the myosin rod mutation R1500P disrupts acto-myosin binding

This paper describes a mouse model of Laing distal myopathy caused by the R1500P mutation in {beta}-myosin, showing structural and functional muscle defects and weakened acto-myosin binding.

SWIMMING PREVENTS MEMORY IMPAIRMENT BY INCREASING THE ANTIOXIDANT DEFENSE IN AN ANIMAL MODEL OF DUCHENNE MUSCULAR DYSTROPHY

This study shows that swimming reduces oxidative stress and improves memory in an animal model of Duchenne muscular dystrophy.

mTORC1 signaling is not essential for the maintenance of muscle mass and function in adult sedentary mice

This study shows that mTORC1 inhibition in adult mice does not cause muscle atrophy or functional decline, despite metabolic and morphological changes.

A mutation-independent approach via transcriptional upregulation of a disease modifier gene rescues muscular dystrophy in vivo.

This paper demonstrates that upregulating a disease modifier gene using CRISPR/dCas9 can rescue muscular dystrophy in mice, showing that muscle fibrosis may be reversible.

High-resolution mass spectrometry-based non-targeted metabolomic discovery of disease and glucocorticoid biomarkers in an animal model of muscular dystrophy

This study identifies disease and glucocorticoid biomarkers in a muscular dystrophy mouse model using high-resolution mass spectrometry.

Single cell dynamics of embryonic muscle progenitor cells in zebrafish

The paper uses live imaging and single cell clonal analysis to study the dynamic behaviors of zebrafish embryonic muscle progenitor cells during quiescence and activation.

Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in Nemaline Myopathy

This study identifies KLHL41's role in regulating NRAP degradation during skeletal muscle development, showing that its dysfunction contributes to nemaline myopathy pathology.

Mitogen-Activated Protein Kinase-Dependent Fiber-Type Regulation in Skeletal Muscle

This study shows that sustained MEK1-ERK1/2 activity in skeletal muscle promotes a fast-to-slow fiber-type switch, suggesting potential therapeutic applications for enhancing muscle metabolic effectiveness.

Optogenetic and transcriptomic interrogation of enhanced muscle function in the paralyzed mouse whisker pad

This study uses optogenetic stimulation and transcriptome profiling to show enhanced functional and transcriptomic changes in paralyzed mouse whisker pad muscles after denervation.

Auto-inhibition of myoblast fusion by cyclic receptor signalling.

This study identifies TGFβ signaling as a regulatory brake on myoblast fusion, showing that its cyclic activation controls the rate of muscle fusion during embryonic development.