Muscle Physiology and Disorders

The paper identifies the VEGFA-FLT1-AKT1 pathway as promoting muscle stem cell survival through endothelial gene expression.

This study shows SRSF2 is essential for MyoD progenitor migration and differentiation in skeletal muscle development, with effects mediated through gene regulation and alternative splicing.

The paper develops an agent-based model to simulate muscle regeneration, showing that combined cytokine parameter changes improve CSA recovery by 13%.

The paper shows that microbial-derived exerkines from exercise-trained mice prevent skeletal muscle atrophy in a hindlimb-immobilization model.

The paper shows that deleting miR-146a enhances dystrophin protein restoration in a DMD model using exon skipping therapy.

This study identifies SIX transcription factors as key regulators of DUX4 expression in FSHD muscle cells, showing they drive DUX4 transcription and are negatively regulated by DUX4 itself.

The paper analyzes genes mutated in muscular dystrophies to identify functional patterns linked to distal or proximal muscle weakness distribution.

This study shows that loss of p300 and CBP in skeletal muscle causes severe contractile dysfunction, but mitochondrial function and cross-bridge cycling are not the primary causes.

This study investigates the effects of HMGCR deficiency on skeletal muscle development through genetic knockdown in mice and Drosophila, revealing shared mechanisms in three HMGCR-related muscle diseases.

The paper identifies a novel DMD mutation causing cryptorchidism through whole-genome sequencing and CRISPR-Cas9 mouse modeling.

This study quantifies matrix deposition by muscle stem cells during activation using engineered hydrogels and shows it is critical for maintaining stem cell function.

This study identifies age- and caloric restriction-associated miRNA expression changes in rat skeletal muscle and their functional impacts on muscle cell processes.

This study examines the natural history of serum creatine kinase levels and motor, pulmonary, and cardiac functions in 337 Japanese DMD patients over 30 years.

The paper creates a humanized knock-in mouse model with a deep-intronic splice-activating variant to test antisense therapeutics for Collagen VI-related muscular dystrophies.

The paper identifies compounds BPS and BPF that upregulate key downregulated genes in FSHD2 using single-cell RNA-Seq data and computational analysis.

This study uses RNA sequencing to identify gene expression changes in aged muscle and how caloric restriction affects these changes, revealing key pathways and hub genes involved in sarcopenia.

This study identifies novel embryonic and metabolic phenotypes in SelN-deficient zebrafish and myoblasts, linking SelN function to redox and metabolic pathways.

The paper identifies metavinculin's role in switching Wnt pathways to regulate skeletal muscle differentiation and suggests therapeutic targets for muscle disorders.

The paper identifies LIF as a factor that improves the engraftability of cultured muscle stem cells using an in vivo PSC differentiation platform.

This study identifies the PI(4,5)P2 pathway's role in T-tubule formation and muscle function using Drosophila models.

This study shows that removing pomt1 in zebrafish leads to dystroglycanopathy phenotypes, including muscle disease and retinal defects, and highlights the role of maternal pomt1 mRNA in development.

This study shows that activating Wnt/β-catenin signaling in skeletal muscle of obese mice improves oxidative metabolism and reduces hyperglycemia.

The paper identifies distinct molecular and functional properties of extraocular muscle stem cells compared to limb muscle stem cells using scRNA-seq and other methods.

This study shows that Cre recombinase activation in skeletal muscle stem cells impairs muscle regeneration, highlighting off-target effects of Pax7CreERT2 mice.

This study investigates whether lipid peroxidation mediates muscle atrophy caused by PSD deficiency and finds that it does not.

This study characterizes NEB mutations in NEM2 patients, revealing mechanisms of nebulin dysfunction and the potential therapeutic benefit of Omecamtiv mecarbil.

The paper identifies a shorter matriglycan on dystroglycan that maintains neuromuscular function in adult mice and protects skeletal muscle from damage.

This study shows that loss of Mfn2 reduces MAM and activates Notch signaling in muscle atrophy, and DAPT treatment improves mitochondrial function and regeneration.

The paper identifies senescent fibro-adipogenic progenitors (FAPs) as pro-regenerative in muscle regeneration using single-cell RNA sequencing in mice.

This study shows that Scx is required for satellite cell expansion and muscle regeneration, with distinct target genes from tendon development.