Muscle Physiology and Disorders

Gelsolin and dCryAB act downstream of muscle identity genes and contribute to preventing muscle splitting and branching in Drosophila

The paper identifies Gelsolin and dCryAB as downstream effectors of muscle identity genes that prevent muscle splitting and branching in Drosophila.

Single-nucleus transcriptomics reveals functional compartmentalization in syncytial skeletal muscle cells

The paper uses snRNAseq to identify nuclear subtypes in skeletal muscle cells, revealing new compartments and functional signatures in dystrophic and regenerating muscle.

Myotube hypertrophy is associated with cancer-like metabolic reprogramming and limited by PHGDH

This study shows that muscle hypertrophy involves cancer-like metabolic reprogramming, with PHGDH playing a key role in regulating myotube size through glycolytic pathways.

Donnan dominated ion homeostasis and the longevity of ischemic Na+-loaded dystrophic skeletal muscle

This paper models ion homeostasis in dystrophic skeletal muscle to explain its prolonged survival despite Na+-overload and ischemia, identifying key ion permeability parameters as therapeutic targets.

lncRNA DLEU2 acts as a miR-181a sponge regulated SEPP1 (may as a biomarker for sarcopenia) to inhibit skeletal muscle differentiation and regeneration

The paper develops a predictive model for sarcopenia using a ceRNA network and validates the lncDLEU2-miR-181a-SEPP1 pathway's role in inhibiting muscle differentiation and regeneration.

In Vivo Study of Key Transcription Factors in Muscle Satellite Cells by CRISPR/Cas9/AAV9-sgRNA Mediated Genome Editing

This study develops a CRISPR/Cas9/AAV9-sgRNA system for in vivo genome editing in muscle satellite cells to investigate key transcription factors during activation and regeneration.

In vivo RyR1 reduction in muscle triggers a core-like myopathy

This study shows that reducing RyR1 in mice causes muscle weakness, atrophy, and structural changes similar to Central Core Disease.

Transcriptome and epigenome diversity and plasticity of muscle stem cells following transplantation

This study identifies molecular differences between extraocular and limb muscle stem cells, showing that EOM MuSCs reprogram their transcriptome and epigenome after transplantation, with some genes resisting engraftment.

Cell autonomous requirement of Neurofibromin (Nf1) for postnatal muscle hypertrophic growth and metabolic homeostasis

This study shows that Nf1 is required for postnatal muscle growth and metabolic homeostasis, with loss of Nf1 causing muscle atrophy and metabolic changes.

Fine-tuning of the PAX-SIX-EYA-DACH network by multiple microRNAs controls embryo myogenesis

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.

Autophagic signaling promotes systems-wide remodeling in skeletal muscle upon oncometabolic stress

This study shows that D2-HG induces cachexia in mice by disrupting NAD+ homeostasis and autophagy, revealing metabolic vulnerabilities in skeletal muscle.

Myf6/MRF4 is a Myogenic Niche Regulator Required for the Maintenance of the Muscle Stem Cell Pool

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

Metformin rescues muscle function in BAG3 myofibrillar myopathy models

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.

Myogenin is an Essential Regulator of Adult Myofibre Growth and Muscle Stem Cell Homeostasis

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

FHOD-1 is the only formin in Caenorhabditis elegans that promotes striated muscle growth and Z-line organization in a cell autonomous manner

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.

PTEN Inhibition Ameliorates Muscle Degeneration and Improves Muscle Function in a Mouse Model of Duchenne Muscular Dystrophy

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

High-dose pyruvate treatment alters skeletal muscle differentiation and expression of inflammation-related genes

This study examines the effects of high-dose pyruvate on skeletal muscle differentiation and inflammation-related gene expression using C2C12 cells and gene expression data from the GSE5497 dataset.

Heterogeneous distribution of mRNAs within flight muscle fibers, and implications for function

The paper identifies spatially regionalized mRNA expression in Drosophila melanogaster flight muscle syncytia, revealing non-uniform protein requirements along their length.

De Novo Phosphoinositide Synthesis in Zebrafish Is Required for Triad Formation but Not Essential for Myogenesis

DOCK3 is a dosage-sensitive regulator of skeletal muscle and Duchenne muscular dystrophy-associated pathologies.

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.

A genome-wide CRISPR/Cas phenotypic screen formodulators of DUX4 cytotoxicity reveals screen complications

The paper performs a genome-wide CRISPR/Cas9 screen to identify modulators of DUX4 cytotoxicity in FSHD but finds no key effectors other than DUX4 itself.

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

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.

miR-206 enforces a slow muscle phenotype

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

P38α Regulates Expression of DUX4 in Facioscapulohumeral Muscular Dystrophy

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.

A motor axonopathy in a mouse model of Duchenne Muscular Dystrophy

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

Single-nucleus RNA-seq identifies divergent populations of FSHD2 myotube nuclei

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

Dyrk1b is a key Regulatory Kinase Integrating Fgf, Shh and mTORC1 signaling in Skeletal Muscle Development and Homeostasis

This study identifies Dyrk1b as a key kinase integrating Fgf, Shh, and mTORC1 signaling in skeletal muscle development and homeostasis through zebrafish and C2C12 cell models.

The Drosophila FUS ortholog cabeza promotes adult founder myoblast selection by Xrp1-dependent regulation of FGF signaling

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

miR-206 family is important for mitochondrial and muscle function, but not essential for myogenesis in vitro

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

Lymphocytes contribute to DUX4 target genes in FSHD muscle biopsies

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