Muscle Physiology and Disorders

A circulating biomarker of facioscapulohumeral muscular dystrophy clinical severity, valid in skeletal muscle and blood

The paper identifies a circulating transcriptomic biomarker in blood that correlates with FSHD clinical severity and validates it in muscle tissue.

Modeling exercise using optogenetically contractible Drosophila larvae

This study develops an optogenetic model of muscle contraction in Drosophila larvae to investigate acute exercise-like responses and identifies transcriptional similarities between fly and human exercise-induced genes.

PPMO-mediated exon skipping induces uniform sarcolemmal dystrophin rescue with dose-dependent restoration of circulating microRNA biomarkers and muscle biophysical properties

This study shows that PPMO-mediated exon skipping in mdx mice restores uniform dystrophin expression and dose-dependently improves serum microRNA biomarkers and muscle biophysical properties.

Drosophila Tropomodulin is required for multiple actin-dependent processes in myofiber assembly and maintenance

This study shows that Drosophila Tropomodulin is essential for actin-dependent processes in myofiber assembly and maintenance, leading to myopathy-related phenotypes when disrupted.

Tension-driven multi-scale self-organisation in human iPSC-derived muscle fibers

This study shows that mechanical tension drives multi-scale self-organisation in human iPSC-derived muscle fibers by coordinating sarcomere assembly and myofiber bundling.

Rapid histological quantification of muscle fibrosis and lysosomal activity using the HSB colour space

The paper develops a method using the HSB color space to rapidly quantify muscle fibrosis and lysosomal activity in histological images, validated across animal models.

Posttranslational modifications of the DUX4 protein impact toxic function

This study identifies posttranslational modifications of DUX4 that regulate its toxic function in FSHD and suggests potential therapeutic targets.

CXCR7 promotes foetal myoblast fusion at muscle fiber tips independently of Myomaker via a beta1integrin-EGFR-dependent mechanism

The paper shows CXCR7 promotes myoblast fusion at muscle fiber tips in chicken embryos through a beta1integrin-EGFR pathway, independent of Myomaker.

KDR Signaling in Muscle Stem Cells Promotes Asymmetric Division and Progenitor Generation for Efficient Regeneration

This study identifies KDR signaling as essential for muscle stem cell asymmetric division and progenitor generation, crucial for efficient muscle regeneration.

Hypomethylation of contracted D4Z4 repeats in facioscapulohumeral muscular dystrophy

This study uses Nanopore CRISPR/Cas9-targeted resequencing to diagnose FSHD by detecting D4Z4 repeat length and methylation status, finding significant hypomethylation in contracted repeats and its correlation with disease phenotype.

Decoding the transcriptome of denervated muscle at single-nucleus resolution

This study uses snRNA-seq to analyze denervated muscle, identifying transcriptional changes in specific myonuclei subtypes and revealing gene regulatory networks and metabolic shifts associated with muscle atrophy.

Natural history of a mouse model of X-linked myotubular myopathy

The paper conducts a longitudinal study of Mtm1 knockout mice to understand the natural history of X-linked myotubular myopathy, identifying molecular and structural changes preceding and coinciding with disease phenotypes.

A guide to examining intramuscular fat formation and its cellular origin in skeletal muscle

This paper describes a protocol for preserving adipocyte morphology in skeletal muscle sections to study intramuscular fat formation and its cellular origin.

Decreased miRNA-148a-3p expression in skeletal muscle of patients with chronic kidney disease

The paper identifies decreased miRNA-148a-3p expression in CKD skeletal muscle and shows its potential role in reducing protein degradation in vitro.

Human skeletal muscle ageing atlas

This study creates a single-cell and single-nucleus transcriptomic atlas of human skeletal muscle ageing, revealing mechanisms in muscle stem cells, myofibers, and the microenvironment.

RNA-BINDING PROTEINS DIRECT MYOGENIC CELL FATE DECISIONS

The paper identifies Hnrnpa2b1 as a key RBP regulating myogenic differentiation through post-transcriptional control in skeletal muscle regeneration.

An in vivo approach to characterize novel variants associated with musculoskeletal disorders

This study uses zebrafish to model TPM2 variants associated with musculoskeletal disorders, finding correlations between variant severity and clinical outcomes.

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

The paper identifies heterozygous frameshift variants in hnRNPA2B1 causing early-onset oculopharyngeal muscular dystrophy by altering nucleocytoplasmic transport.

An updated C. elegans nuclear body muscle transcriptome for studies in muscle formation and function

The paper updates a nuclear FACS sorting method to analyze the C. elegans muscle transcriptome, identifying muscle-specific genes, miRNAs, and regulatory elements.

Actin-related protein 5 functions as a novel modulator of MyoD and MyoG in skeletal muscle and in rhabdomyosarcoma

This study identifies Arp5 as an inhibitor of MyoD and MyoG by binding to their CR region, affecting skeletal muscle differentiation and rhabdomyosarcoma progression.

Deleterious impacts of inactivity and beneficial impacts of neuromuscular electrical stimulation on muscle structure and function in the zebrafish model of Duchenne Muscular Dystrophy

The paper investigates the effects of inactivity and neuromuscular stimulation on muscle health in zebrafish with Duchenne Muscular Dystrophy, finding that endurance stimulation improves multiple outcomes.

Critical role of PCYT2 in muscle health and aging

This study identifies PCYT2 as critical for muscle health and aging, showing its deficiency causes muscle weakness and aging, and demonstrates therapeutic potential through AAV-based delivery.

MicroRNA-24-3p promotes skeletal muscle differentiation and regeneration by regulating HMGA1

This study identifies miR-24-3p as a regulator of skeletal muscle differentiation and regeneration by targeting HMGA1 and ID3.

KIAA1109 is required for survival and for normal development and function of the neuromuscular junction in mice

This paper shows that KIAA1109 is essential for mouse survival and proper neuromuscular junction development and function.

Structural and functional alterations of neuromuscular synapses in a mouse model of ACTA1 congenital myopathy

This study examines structural and functional changes in neuromuscular junctions of Acta1+/Ki mice, revealing impairments in synapse structure and transmission.

Clonal behaviour of myogenic precursor cells throughout the vertebrate lifespan.

The paper introduces Musclebow, a genetic lineage tracing method in zebrafish, to study myogenic precursor cell behavior during skeletal muscle development, repair, and maintenance across the lifespan.

Uhrf1 governs the proliferation and differentiation of muscle satellite cells

This study shows that Uhrf1 is essential for the proliferation and differentiation of muscle satellite cells by maintaining DNA methylation patterns.

RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells in DMD

This study shows PDGF-AA activates the RhoA/ROCK2 pathway in DMD fibro-adipogenic progenitor cells, leading to fibrosis, and that blocking this pathway improves muscle function in a mouse model.

Mechanosensitive Ion Channel Piezo1 Regulates Myocyte Fusion during Skeletal Myogenesis

This study shows that Piezo1 regulates myocyte fusion during skeletal myogenesis by modulating Ca2+ influx and Myomaker expression, with implications for muscle diseases.

Dynamic regulation of inter-organelle communication by ubiquitylation controls skeletal muscle development and disease onset

This study identifies KLHL40 as a negative regulator of ER-Golgi trafficking through ubiquitylation, revealing its role in skeletal muscle development and disease.