Muscle Physiology and Disorders

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

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.

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

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.

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

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

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

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.

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

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.

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

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

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.

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 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.

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

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

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

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.

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.

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.

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.

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.

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.

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.

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

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

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

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.

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