Muscle Physiology and Disorders

The paper identifies miR-128's role in regulating skeletal myogenesis by targeting EYA4 and shows that the PSED network is co-regulated by multiple muscle-enriched microRNAs.

This study shows that Myf6/MRF4 regulates myokine production and maintains the muscle stem cell pool by controlling signaling pathways like EGFR and STAT3.

This study identifies Metformin as a potential therapy for BAG3 myofibrillar myopathy by rescuing muscle function in zebrafish models and reducing protein aggregates in human cells.

This study shows that Myogenin regulates adult muscle fibre growth and stem cell homeostasis by affecting myonuclear domain size, MuSC activation, and mTORC1 signaling.

This study identifies FHOD-1 as the sole formin required for striated muscle growth and Z-line organization in C. elegans through cell autonomous mechanisms.

This study shows that PTEN inhibition reduces muscle degeneration and improves function in mdx mice, a model of Duchenne Muscular Dystrophy.

This study investigates the role of DOCK3 in skeletal muscle and Duchenne muscular dystrophy, finding that reducing DOCK3 improves dystrophic muscle histology while complete loss worsens muscle function.

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

This study shows miR-206 is necessary for maintaining a slow muscle phenotype in both skeletal and cardiac muscle and contributes to sexual dimorphisms.

This study identifies p38 as a regulator of DUX4 expression in FSHD, showing that p38 inhibitors reduce DUX4 and cell death in patient-derived myotubes.

This study identifies an axonopathy in the phrenic and hypoglossal nerves of mdx mice, linking it to respiratory failure in Duchenne muscular dystrophy.

The paper uses single-nucleus RNA-seq to identify two distinct populations of FSHD2 myotube nuclei with different transcriptional profiles related to DUX4 expression.

This study shows that the Drosophila FUS ortholog cabeza regulates founder myoblast selection via Xrp1-dependent FGF signaling, affecting muscle development.

The paper shows that the miR-206 family is not essential for myogenesis in vitro but affects mitochondrial function and muscle performance in vivo.

The paper shows that DUX4 and its target genes are expressed in immune cells, not muscle cells, in FSHD muscle biopsies, correlating with inflammation.

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

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

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

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.

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

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.

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.

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

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.

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

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

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

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.