Muscle Physiology and Disorders

Consistent MYORG Downregulation in DMD and LGMD: Transcriptomic and Proteomic Evidence Supporting Deoxygalactonojirimycin Repurposing

The paper identifies consistent MYORG downregulation in DMD and LGMD through transcriptomic and proteomic analysis, supporting the repurposing of deoxygalactonojirimycin as a pharmacological chaperone.

Sequential VEGF-A165 plasmid and AAV-follistatin gene therapy enhances muscle hypertrophy and capillarisation in C57BL/6 mice

This study shows that combining VEGF-A165 plasmid with AAV-FST gene therapy in mice increases muscle hypertrophy and capillarisation more than either treatment alone.

Erosion of regenerative regulation: age-associated shifts in the skeletal muscle fiber epigenome and transcriptome

The paper identifies age-associated changes in the skeletal muscle epigenome and transcriptome, revealing shifts in chromatin accessibility and gene expression linked to metabolic and senescence pathways.

Skeletal Muscle Stem Cell-Derived Myonuclei Adopt Divergent Terminal Transcriptional States in Adult and Aged Muscle In Response to a Hypertrophic Stimulus

The paper identifies age-related differences in the transcriptional states of MuSC-derived myonuclei in response to mechanical overload.

Mechanochemical modeling of exercise-induced skeletal muscle hypertrophy

This paper develops a multiscale computational model to predict skeletal muscle hypertrophy by integrating mechanical and biochemical stimuli, showing how exercise protocols affect muscle growth and shape.

Postnatal Pax7-expressing limb cells are multipotent and generate non-myogenic lineages that persist into adulthood.

This study shows that postnatal Pax7+ cells in limb muscles are multipotent, generating non-myogenic lineages like fibro-adipogenic progenitors that persist into adulthood and respond to injury.

Androgen receptor determines skeletal muscle sexual dimorphism

This study identifies AR-dependent Mybph repression as a mechanism contributing to skeletal muscle sexual dimorphism using ChIL-seq and an AirID-AR knock-in mouse.

Histopathology and spatial transcriptomics jointly map myofiber-specific pathological programs in mTORC1-driven myopathy

This study combines histopathology and spatial transcriptomics to show that mTORC1 hyperactivation causes fiber-type-specific pathological changes in skeletal muscle.

In vitro and in silico characterization of competitive inhibition and repression of DUX4 target gene activation as a therapeutic approach for facioscapulohumeral muscular dystrophy (FSHD)

This paper demonstrates that a DUX4 DNA-binding domain fused to a human KRAB domain can effectively repress DUX4-FL transcriptional activity in vitro, and develops computational models to explore its therapeutic potential for FSHD.

TDP-43 Sustains Satellite Cells to Maintain and Regenerate Skeletal Muscle

This study identifies TDP-43 as essential for satellite cell maintenance and muscle repair by supporting stress response transcripts during quiescence-to-GAlert transition.

Whole-Mount Optical Clearing of Rabbit Tenuissimus Muscle for Assessment of Muscle Spindle Morphology

This paper describes a workflow for three-dimensional visualization of muscle spindles in rabbit tenuissimus muscle using optical clearing and fluorescent labeling.

Axonopathy in Duchenne Muscular Dystrophy limits microdystrophin gene therapy efficacy

This study shows that axonopathy in DMD limits microdystrophin gene therapy efficacy by demonstrating that dystrophin is expressed in peripheral nerves and its absence causes nerve structural collapse and impaired nerve-muscle connectivity.

Distinct extracellular matrix states uncouple collagen accumulation from pathological fibrosis in Duchenne muscular dystrophy

The paper shows that collagen abundance alone does not define fibrosis in DMD, as distinct matrix states with different biological activities and mechanosignaling exist.

Zasp52s differentially expressed intrinsically disordered region confers thin filament stability at the Z-disc

The paper shows that the intrinsically disordered region of Zasp52 in Drosophila is essential for Z-disc stability in indirect flight muscle.

A Conserved Regenerative Architecture Underlies Skeletal Muscle Repair in Adult Zebrafish

This study identifies a conserved regenerative program in adult zebrafish skeletal muscle repair following different injury types, showing shared transcriptional responses and functional modules.

Characterization of the frameshift c.515dupC knock-in mouse model of HSPB8-associated myopathy (MFM13) and evaluation of Trehalose as autophagy modulating therapy.

This study characterizes a HSPB8 knock-in mouse model of MFM13 and evaluates trehalose as a potential autophagy modulating therapy for HSPB8-related myopathy.

The Russian FSHD registry: a first look at the cohort

The paper describes the Russian FSHD registry, analyzing clinical and genetic data to identify disease trajectories and demographic patterns in a national cohort.

Restoration of Capacity to Build Muscle Strength in Geriatric Mice by Inhibition of the Gerozyme 15-Prostaglandin Dehydrogenase

The paper shows that inhibiting 15-PGDH in geriatric mice restores muscle strength by increasing PGE2 levels, which activates an IGF1-mediated circuit for muscle growth.

Loss of TDP-43 drives premature aging and impairs skeletal muscle stem cell pool restoration

This study shows that loss of TDP-43 causes premature aging in skeletal muscle stem cells, reducing their regenerative capacity and leading to muscle degeneration.

Distinct Myogenic Stages Recapitulate Transcriptomic Networks of Skeletal Muscle in COPD Cachexia

The paper identifies transcriptomic signatures of COPD and COPD-cachexia in skeletal muscle and shows they are preserved across differentiation stages in human muscle-derived cultures.

Supplementation with Fish Oil Rich in Omega-3 Fatty Acids Delays Age-Related Muscle Changes

This study shows that fish oil supplementation during midlife delays age-related muscle decline in rats by improving glucose tolerance, reducing adiposity, and preserving muscle structure and function.

Derivation and characterization of an embryonic-derived muscle progenitor cell line from Atlantic salmon (Salmo salar)

This paper establishes and characterizes a novel muscle progenitor cell line from Atlantic salmon for studying muscle development and aquaculture applications.

Four new Duchenne muscular dystrophy mouse models with clinically relevant exon deletions in the human DMD gene

The paper develops four humanized DMD mouse models with specific human exon deletions to test exon skipping therapies for Duchenne muscular dystrophy.

Metformin enhances differentiation and function of skeletal muscle in models of Facioscapulohumeral Muscular Dystrophy (FSHD)

This study shows that Metformin improves muscle differentiation and function in FSHD models by reducing oxidative stress and enhancing metabolic health.

ADSS1 is a suppressed metabolic control node in dystrophic skeletal muscle

The paper identifies ADSS1 as a suppressed metabolic control node in dystrophic muscle, showing its role in purine metabolism and its impact on inflammatory and adipogenic remodelling.

The titin N2A-MARP signalosome constrains muscle longitudinal hypertrophy in response to stretch

The paper identifies MARPs as key modulators of titin-based mechanotransduction and shows mTORC1 regulates longitudinal muscle hypertrophy in response to stretch.

Targeted DUX4 base editing improves muscle function in an iPSC-derived model of childhood-onset FSHD

This study uses iPSC-derived muscle models to show that DUX4 base editing improves muscle function in childhood-onset FSHD.

GLP-1 and GIP receptor agonism does not directly drive skeletal muscle atrophy or impair myogenesis in primary human myotubes

This study investigates whether GLP-1 and GIP receptor agonism directly causes skeletal muscle atrophy or impairs myogenesis in human myotubes, finding no significant effects.

Evaluating exon-skipping therapies targeting the central nervous system in Duchenne muscular dystrophy using high-resolution spatial transcriptomics

This study uses spatial transcriptomics to evaluate exon-skipping therapies for DMD in the CNS, showing U7ex51 effectively restores full-length dystrophin isoforms in neurons.

Microtubule architecture and detyrosination bidirectionally modulate sarcomere shortening in skeletal muscle fibers

This study shows that microtubule organization and detyrosination, not abundance, affect sarcomere shortening in skeletal muscle fibers.