Muscle Physiology and Disorders

A novel zebrafish model of SPEG-related centronuclear myopathy (CNM): characterization and comparison with other CNM model zebrafish

The paper creates a zebrafish model of SPEG-related centronuclear myopathy that replicates human disease features and identifies shared pathomechanisms across CNM subtypes.

Identification of a shared, common haplotype cosegregating with an SGCB c.544A>C mutation in Indian patients affected with sarcoglycanopathy

The paper identifies a shared haplotype cosegregating with a c.544A>C mutation in SGCB in Indian sarcoglycanopathy patients, suggesting a founder effect and potential genetic marker for risk stratification.

Comparison of neuromuscular junction dynamics following ischemic and aged skeletal muscle

This study compares neuromuscular junction dynamics in aged and ischemic skeletal muscle, finding similar degeneration patterns in both conditions.

Six1 Promotes Skeletal Muscle Thyroid Hormone Response through Regulation of the MCT10 Transporter

This study identifies Six1's role in regulating MCT10, a thyroid hormone transporter, in skeletal muscle, linking it to fast-twitch muscle gene expression and metabolism.

Loss of α-actinin-3 confers protection from eccentric contraction damage in fast-twitch EDL muscles from aged mdx dystrophic mice by reducing pathological fibre branching

The study shows that loss of α-actinin-3 in aged mdx dystrophic mice reduces fibre branching and protects against eccentric contraction damage.

Candidate gene modifiers of dystrophinopathy identified by the uniform application of genome-wide datasets to novel GWAS-identified loci

The paper applies functional genomic datasets to six top GWAS loci to identify candidate gene modifiers of dystrophinopathy severity.

Gene expression profiling of skeletal muscles

This study compares gene expression profiles between soleus and tibialis anterior muscles to identify functional differences and their implications for muscle specialization and disease susceptibility.

seRNA PAM-1 regulates skeletal muscle satellite cell activation and aging through trans regulation of Timp2 expression synergistically with Ddx5

This study identifies PAM-1, a long non-coding RNA that regulates skeletal muscle satellite cell activation and aging by trans-regulating Timp2 expression with Ddx5.

The Pump-Leak/Donnan ion homeostasis strategies of skeletal muscle fibers and neurons

The paper models ion homeostasis in skeletal muscle fibers and neurons, revealing that skeletal muscle uses a Donnan-dominated strategy while neurons use a Pump-Leak strategy, enhancing resilience in vertebrates.

Muscle group specific transcriptomic and DNA methylation differences related to developmental patterning in FSHD

The paper identifies muscle group-specific transcriptomic and DNA methylation differences in FSHD that relate to developmental patterning and disease susceptibility.

Duchenne Muscular Dystrophy Cell Culture Models Created By CRISPR/Cas9 Gene Editing And Their Application To Drug Screening

The paper describes CRISPR/Cas9-generated Duchenne muscular dystrophy cell models for drug screening, showing successful exon deletion and utrophin upregulation.

Transcriptomic analysis of mdx mouse muscles reveals a signature of early human Duchenne muscular dystrophy

The paper performs RNA-seq analysis of mdx mouse muscles to identify a DMD disease signature and shows its relevance to early human DMD.

The myotendinous junction marker collagen XXII enables zebrafish postural control learning and optimal swimming performance through its force transmission activity

This study shows that col22a1 gene ablation in zebrafish leads to variable phenotypes in muscle function and movement, highlighting its role in force transmission and postural control.

Myonuclear maturation dynamics in aged and adult regenerating mouse skeletal muscle

The paper investigates myonuclear maturation dynamics in aged and adult regenerating mouse skeletal muscle, finding that transcriptional heterogeneity arises during maturation and is altered in aged muscle.

Fibroblast fusion to the muscle fiber regulates myotendinous junction formation

The paper identifies fibroblasts that adopt a myogenic program and fuse into muscle fibers at myotendinous junctions, contributing to junction formation through hybrid cell characteristics.

miR-486 is an epigenetic modulator of Duchenne muscular dystrophy pathologies

The paper shows miR-486 is reduced in DMD muscles and its loss causes muscle and cardiac defects, identifying it as a driver of disease and a potential biomarker.

Hoxa10 mediates positional memory to govern stem cell function in adult skeletal muscle

This study identifies Hoxa10 as a mediator of positional memory in adult skeletal muscle stem cells, linking embryonic gene expression to region-specific regenerative capacity.

Zebrafish Danio rerio trunk muscle structure and growth from a spatial transcriptomics perspective

This study uses spatial transcriptomics to analyze zebrafish trunk muscle structure and growth, identifying spatial gene expression patterns and developmental processes in different muscle types.

Cholesterol metabolism is a potential therapeutic target in Duchenne Muscular Dystrophy

This study identifies dysregulated miRNAs in DMD patients and mice, linking cholesterol metabolism and the mevalonate pathway to disease progression, with Simvastatin treatment showing therapeutic potential.

A genetic screen for regulators of muscle morphogenesis in Drosophila

This paper reports a genetic screen in Drosophila to identify regulators of muscle morphogenesis, finding new loci and alleles associated with muscle development.

Systemic antisense therapeutics inhibiting DUX4 expression improves muscle function in an FSHD mouse model

This study shows that systemic antisense therapy targeting DUX4 improves muscle function in an FSHD mouse model by reducing DUX4 expression and associated pathology.

DUX4 induces a homogeneous sequence of molecular changes, culminating in the activation of a stem-cell-like transcriptional network and induction of apoptosis in somatic cells

The paper investigates how DUX4 induces a sequence of transcriptional changes leading to apoptosis in somatic cells by activating a stem-cell-like network.

C-bouton components on rat extensor digitorum longus motoneurons are resistant to chronic functional overload

This study examines adaptations in rat motoneurons and C-boutons under chronic functional overload, finding that motoneuron size decreases while C-boutons remain largely unchanged.

Myofibril and mitochondria morphogenesis are coordinated by a mechanical feedback mechanism in muscle

The paper shows that myofibril and mitochondria morphogenesis in Drosophila muscles are coordinated by a biomechanical feedback mechanism involving spalt and mitochondrial dynamics.

Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium flux

This study shows that zebrafish desmin gene knockouts do not cause skeletal muscle degeneration but alter calcium flux in myofibers.

Differentiation reveals the plasticity of age-related change in murine muscle progenitors

The paper investigates age-related changes in muscle progenitors by analyzing single-cell RNA-seq data from young and aged mice, finding that differentiation amplifies age-related changes in progenitors but masks some changes.

Sca1+ cells as direct isolate (ex vivo) versus in vitro cultured exhibit differential proteomic signatures in murine skeletal muscle

The paper compares proteomic profiles of ex vivo and in vitro cultured Sca-1+ cells in mouse skeletal muscle, identifying differences in protein abundance and pathways related to myogenesis.

Nanopore direct RNA sequencing detects DUX4-activated repeats and isoforms in human muscle cells

The paper uses nanopore direct RNA sequencing to analyze DUX4-induced gene expression and repetitive elements in human muscle cells, identifying new fusion transcripts and splicing events.

Myogenesis modelled by human pluripotent stem cells uncovers Duchenne muscular dystrophy phenotypes prior to skeletal muscle commitment

This study uses hiPSCs from DMD patients to model myogenesis and identifies early disease phenotypes before skeletal muscle commitment.

Relationship of DUX4 and target gene expression in FSHD myocytes

The paper uses RNA FISH to study DUX4 and its target gene expression dynamics in FSHD patient myocytes, revealing a unique expression pattern and self-sustaining target gene network.