Muscle Physiology and Disorders

A novel family of lncRNAs relate facioscapulohumeral muscular dystrophy to nucleolar architecture and protein synthesis

This study identifies a family of lncRNAs, including FRG2A, whose overexpression in FSHD patients disrupts nucleolar architecture and reduces protein synthesis, linking FSHD to muscle wasting.

Acute microtubule changes linked to DMD pathology are insufficient to impair contractile function or enhance contraction-induced injury in healthy muscle

This study investigates the impact of microtubule alterations in DMD muscle, finding no impairment in contractile function but some protection against contraction injury with pharmacologic treatment.

Myogenic dedifferentiation involves a p53-dependent reorganization of PLK4 localization during centrosome regeneration

The paper investigates centrosome regeneration during myogenic dedifferentiation, showing p53 inhibition is required and PLK4 localization changes are key.

Muscle cofilin alters neuromuscular junction postsynaptic development to strengthen functional neurotransmission

This study shows that cofilin regulates postsynaptic actin organization and neuromuscular junction function in a Drosophila nemaline myopathy model, leading to impaired neurotransmission.

Endothelial cell signature in muscle stem cells validated by VEGFA-FLT1-AKT1 axis promoting survival of muscle stem cell

The paper identifies the VEGFA-FLT1-AKT1 pathway as promoting muscle stem cell survival through endothelial gene expression.

SRSF2 is a key player in orchestrating the directional migration and differentiation of MyoD progenitors during skeletal muscle development

This study shows SRSF2 is essential for MyoD progenitor migration and differentiation in skeletal muscle development, with effects mediated through gene regulation and alternative splicing.

Agent-based model demonstrates the impact of nonlinear, complex interactions between cytokines on muscle regeneration

The paper develops an agent-based model to simulate muscle regeneration, showing that combined cytokine parameter changes improve CSA recovery by 13%.

Microbial-Derived Exerkines Prevent Skeletal Muscle Atrophy

The paper shows that microbial-derived exerkines from exercise-trained mice prevent skeletal muscle atrophy in a hindlimb-immobilization model.

Deletion of miR-146a enhances therapeutic protein restoration in model of dystrophin exon skipping

The paper shows that deleting miR-146a enhances dystrophin protein restoration in a DMD model using exon skipping therapy.

Developmental regulators drive DUX4 expression in facioscapulohumeral muscular dystrophy

This study identifies SIX transcription factors as key regulators of DUX4 expression in FSHD muscle cells, showing they drive DUX4 transcription and are negatively regulated by DUX4 itself.

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

The paper analyzes genes mutated in muscular dystrophies to identify functional patterns linked to distal or proximal muscle weakness distribution.

Effects of HMGCR deficiency on skeletal muscle development

This study investigates the effects of HMGCR deficiency on skeletal muscle development through genetic knockdown in mice and Drosophila, revealing shared mechanisms in three HMGCR-related muscle diseases.

Novel mutation leading to splice donor loss in a conserved site of DMD causes cryptorchidism

The paper identifies a novel DMD mutation causing cryptorchidism through whole-genome sequencing and CRISPR-Cas9 mouse modeling.

Unveiling Ageing-Associated and Caloric Restriction-Associated Changes in miRNA Expression in Rat Skeletal Muscle and the Mechanisms Mediating their Effects on Muscle Cell Function

This study identifies age- and caloric restriction-associated miRNA expression changes in rat skeletal muscle and their functional impacts on muscle cell processes.

Natural history of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 patients with Duchenne muscular dystrophy: a retrospective study at a single referral center in Japan

This study examines the natural history of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 Japanese DMD patients over 30 years.

A humanized knock-in Col6a1 mouse recapitulates a deep-intronic splice-activating variant

The paper creates a humanized knock-in mouse model with a deep-intronic splice-activating variant to test antisense therapeutics for Collagen VI-related muscular dystrophies.

Unlocking the Treatment of FacioscapulohumeralMuscular Dystrophy Type 2: The Bisphenol Connection

The paper identifies compounds BPS and BPF that upregulate key downregulated genes in FSHD2 using single-cell RNA-Seq data and computational analysis.

Unravelling the Transcriptomic Symphony of Sarcopenia: Key Pathways and Hub Genes Altered by Muscle Ageing and Caloric Restriction Revealed by RNA Sequencing

This study uses RNA sequencing to identify gene expression changes in aged muscle and how caloric restriction affects these changes, revealing key pathways and hub genes involved in sarcopenia.

Zebrafish and cellular models of SELENON-Related Myopathy exhibit novel embryonic and metabolic phenotypes

This study identifies novel embryonic and metabolic phenotypes in SelN-deficient zebrafish and myoblasts, linking SelN function to redox and metabolic pathways.

Removal of pomt1 in zebrafish leads to loss of α-dystroglycan glycosylation and dystroglycanopathy phenotypes

This study shows that removing pomt1 in zebrafish leads to dystroglycanopathy phenotypes, including muscle disease and retinal defects, and highlights the role of maternal pomt1 mRNA in development.

Extraocular muscle stem cells exhibit distinct cellular properties associated with non-muscle molecular signatures

The paper identifies distinct molecular and functional properties of extraocular muscle stem cells compared to limb muscle stem cells using scRNA-seq and other methods.

Characterization of NEB mutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects

This study characterizes NEB mutations in NEM2 patients, revealing mechanisms of nebulin dysfunction and the potential therapeutic benefit of Omecamtiv mecarbil.

The reciprocal regulation between mitochondrial-associated membranes and Notch signaling in skeletal muscle atrophy

This study shows that loss of Mfn2 reduces MAM and activates Notch signaling in muscle atrophy, and DAPT treatment improves mitochondrial function and regeneration.

Single-cell RNAseq reveals the pro-regenerative role of senescent FAPs in muscle regeneration

The paper identifies senescent fibro-adipogenic progenitors (FAPs) as pro-regenerative in muscle regeneration using single-cell RNA sequencing in mice.

Skeletal Muscle Satellite Cells Co-Opt the Tenogenic Gene Scleraxis to Instruct Regeneration

This study shows that Scx is required for satellite cell expansion and muscle regeneration, with distinct target genes from tendon development.

Assessing Facioscapulohumeral Muscular Dystrophy through Comparative Analysis of Bulk and Single-Cell Transcriptomes

This study compares bulk and single-cell transcriptomes of FSHD2 to identify differentially expressed genes and pathways, finding that single-cell analysis better reveals muscle-specific gene regulation.

Conserved and species-specific transcriptional responses to daily programmed resistance exercise in rat and mouse.

The paper compares transcriptional responses to resistance exercise in rats and mice, finding conserved pathways but species-specific differences in energy metabolism.

The unique function of Runx1 in skeletal muscle differentiation and regeneration is mediated by an ETS interaction domain

This study identifies the unique role of Runx1 in skeletal muscle differentiation and regeneration through its ETS interaction domain, distinguishing it from Runx2.

Generation and characterization of a novel mouse model of Becker Muscular Dystrophy with a deletion of exons 52 to 55

The paper generates a mouse model with an in-frame deletion of exons 52-55 in Dmd, mimicking Becker Muscular Dystrophy, and characterizes its long-term effects on muscle and heart function.

Pro-inflammatory macrophages impair skeletal muscle regeneration in ischemic-damaged limbs by inducing precocious differentiation of satellite cells

This study identifies pro-inflammatory macrophages as a key factor impairing skeletal muscle regeneration in ischemic-damaged limbs by inducing premature differentiation of satellite cells.