Muscle Physiology and Disorders

Inhibition of Type I PRMTs Reforms Muscle Stem Cell Identity Enhancing their Therapeutic Capacity

This study shows that inhibiting type I PRMTs with MS023 enhances muscle stem cell proliferation and regenerative potential while maintaining stemness.

Decoding Duchenne muscular dystrophy transcriptome to single nuclei level reveals clinical-genetic correlations

This study uses single nuclei RNA sequencing to analyze DMD muscle samples and identifies clinical-genetic correlations by comparing gene expression profiles across cell populations.

Downregulation of dystrophin expression occurs across diverse tumors, correlates with the age of onset, staging, and reduced survival of patients.

This study shows that dystrophin expression is downregulated in many tumors, linked to advanced stages, older age of onset, and poorer survival.

Validation of the association between MRI and gene signatures in facioscapulohumeral dystrophy muscle: implications for clinical trial design

The paper validates the association between MRI characteristics and gene signatures in FSHD muscle, supporting their use as biomarkers for clinical trial design.

Hox11-expressing interstitial cells contribute to adult skeletal muscle at homeostasis

The paper shows Hoxa11-expressing interstitial cells contribute to adult skeletal muscle fibers independently of satellite cells.

Molecular characterization of the intact muscle spindle using a multi-omics approach

This study characterizes the molecular composition of the muscle spindle using transcriptomic and proteomic data, identifies differentiation stages, and validates markers through immunostaining.

A transcriptome atlas of leg muscles from healthy human volunteers reveals molecular and cellular signatures associated with muscle location

The paper constructs a transcriptome atlas of human leg muscles, identifying molecular and cellular differences associated with muscle location and function.

The vitamin B3 analogue nicotinamide riboside has only very minor effects on reducing muscle damage in mdx mice

This study investigates the effects of nicotinamide riboside on muscle damage in mdx mice and finds no significant improvement in muscle pathology markers despite a slight increase in NAD+ levels in some models.

Transcriptional Reprogramming of Skeletal Muscle Stem Cells by the Niche Environment

This study shows that the niche environment significantly influences skeletal muscle stem cell transcriptional activity, with some age-related changes being reversible through exposure to a young niche.

A nanobody toolbox to investigate localisation and dynamics of Drosophila titins

The paper develops a nanobody toolbox to study the localization and dynamics of Drosophila titin homologs in muscle sarcomeres, revealing structural insights and demonstrating nanobodies' utility in vivo.

Functional substitutions of amino acids that differ between GDF11 and GDF8 impact skeletal development and skeletal muscle.

The paper investigates the functional differences between GDF11 and GDF8 by substituting amino acids and identifies distinct effects on skeletal development and muscle.

Multi-omics analysis of sarcospan overexpression in mdx skeletal muscle reveals compensatory remodeling of cytoskeleton-matrix interactions that promote mechanotransduction pathways

This study uses multi-omics analysis to show that sarcospan overexpression in mdx mice compensates for dystrophin deficiency by altering cytoskeleton-matrix interactions and mechanotransduction pathways.

Signaling through the Dystrophin Glycoprotein Complex affects the stress-dependent transcriptome in Drosophila

This study investigates transcriptomic changes in Drosophila DGC mutants under stress conditions, identifying DGC-dependent gene regulation and stress response pathways.

Proteome-wide systems genetics identifies UFMylation as a regulator of skeletal muscle function

The paper identifies UFMylation as a negative regulator of skeletal muscle function through proteome-wide systems genetics in mice and validates it in a disease model.

Spatial and temporal requirement of Mlp60A isoforms during muscle development and function in Drosophila melanogaster

This study investigates the spatio-temporal expression and functional roles of two Mlp60A isoforms in Drosophila muscle development and function, showing their specialized roles in embryonic development and adult flight.

Resolution of fibrosis in mdx dystrophic mouse after oral consumption of N-163 strain of Aureobasidium pullulans produced biological response modifier β-glucan (BRMG)`

This study evaluates the anti-inflammatory and anti-fibrotic effects of N-163 β-glucan in mdx dystrophic mice, showing reduced fibrosis and inflammation markers.

DNAJB6 Isoform Specific Knockdown: Therapeutic Potential for LGMDD1

This study investigates DNAJB6 isoform-specific knockdown as a potential therapy for LGMDD1, showing that reducing DNAJB6b levels in a mouse model corrected proteomic disease signatures.

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism

The paper identifies a splice-altering variant in KLHL40 causing milder NEM8, showing it leads to reduced mRNA and protein expression through aberrant splicing.

PGC-1α in the myofibers regulates the balance between myogenic and adipogenic progenitors affecting muscle regeneration

This study shows that PGC-1α in myofibers increases myogenic progenitors and reduces adipogenesis, enhancing muscle regeneration.

Sex-Specific Role of Myostatin Signaling in Neonatal Muscle Growth, Denervation Atrophy, and Neuromuscular Contractures

This study shows that MSTN signaling inhibition prevents NBPI-induced contractures in female mice but not males, revealing sex-specific effects on muscle growth and proteostasis.

The extracellular matrix differentially directs myoblast motility in distinct forms of muscular dystrophy

The paper shows that different forms of muscular dystrophy have distinct ECM compositions that affect myoblast motility, with annexin A6 playing a key role in enhancing movement.

Metabolic, Fibrotic, and Splicing Pathways Are All Altered in Emery-Dreifuss Muscular Dystrophy Spectrum Patients to Differing Degrees

This study identifies altered metabolic, fibrotic, and splicing pathways in EDMD patients through RNA-Seq and pathway analysis, revealing subgroup distinctions and potential biomarkers.

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

The paper identifies DNAJB4 loss of function variants causing a myopathy with early respiratory failure through exome sequencing and functional studies.

Engineered SMCHD1 and D4Z4 mutations reveal roles of D4Z4 heterochromatin disruption and feedforward DUX4 network activation in FSHD

The paper uses engineered human myoblasts to show that D4Z4 heterochromatin disruption and DUX4 network activation are key in FSHD.

Differential Effects of Mutations of Popeye Domain Containing Proteins on Heteromeric Interaction and Membrane Trafficking

This study investigates how mutations in POPDC proteins affect their heteromeric interaction and membrane trafficking, finding that complex formation is essential for membrane targeting.

Single nuclei transcriptomics of muscle reveals intra-muscular cell dynamics linked to dystrophin loss and rescue

The paper develops a method to isolate nuclei from frozen muscle samples and uses single nuclei transcriptomics to study dystrophin loss and rescue in human DMD and mdx mouse muscle.

An intragenic FAT1 regulatory element deleted in muscular dystrophy patients drives muscle and mesenchyme expression during development

The paper identifies a regulatory element in the FAT1 gene deleted in muscular dystrophy patients and shows it drives expression in muscle and mesenchymal cells in transgenic mice.

Fibroblast-derived HGF integrates muscle and nerve development during morphogenesis of the mammalian diaphragm

This study identifies fibroblast-derived HGF as critical for diaphragm muscularization and phrenic nerve development, showing its role in muscle progenitor recruitment and maintenance.

Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy

The paper develops an iPSC-based model of GNE myopathy, revealing myogenic differentiation defects and implicating EIF2 signaling in disease mechanisms.

Evolution of a chordate-specific mechanism for myoblast fusion

The paper investigates the evolutionary origins of myoblast fusion mechanisms in chordates, identifying the emergence of Myomaker and Myomixer and their roles in muscle development across species.