Muscle Physiology and Disorders

The study shows that the p.Lys254del-CAPN3 mutation is not sufficient to cause late-onset camptocormia in dominant calpainopathy.

This study shows that Lactobacillus reuteri ATG-F4 reduces muscle atrophy by altering gut microbiota and metabolites, with anti-inflammatory effects.

The paper identifies how extracellular monosaccharide availability influences muscle stem cell self-renewal through histone acetylation and metabolic signaling.

This study identifies mitochondrial fusion and beta-oxidation as key drivers of muscle wasting in a Drosophila cancer cachexia model and shows interventions can mitigate muscle loss.

This study identifies dysregulation of the TGFβ pathway in a mouse model of collagen VI-related disorders, linking ECM collagen VI deficiency to altered TGFβ bioavailability and muscle dysfunction.

This study uses pan-genomic data to analyze D4Z4 repeats and CpG methylation in FSHD, finding low methylation correlates with SMCHD1 variants but not clinical phenotypes.

The paper uses spatial proteomics to show diet-induced changes in muscle proteomes, linking desmin expression to inflammation and neural markers in obese mice.

This paper analyzes single-cell transcriptomes from mouse skeletal muscle across lifespan to identify age-related changes in stem cell states and senescence associated with impaired regeneration.

The paper develops and validates a high throughput screening platform using morphological profiling to predict DMD disease phenotype in patient-derived myotubes.

This study shows that MuSK-BMP signaling regulates adult muscle stem cell quiescence and myofiber size, with reduced signaling increasing muscle size and function while preserving stemness.

This paper investigates the role of SPEG in skeletal muscle biology using multi-omics approaches, revealing its interaction with the myospryn complex and its impact on mitochondrial function and calcium signaling.

This study shows that C2A domain mutations in dysferlin cause amyloid formation, which activates the NLRP3 inflammasome and leads to inflammation and muscle dysfunction in Limb-Girdle Muscular Dystrophy Type-2B/2R.

This study shows that Nfe2l1 regulates skeletal muscle proteostasis and function, with its loss causing muscle fiber type switching and insulin resistance in high-fat diet conditions.

This study uses CRISPR-Cas9 to disrupt miR binding sites and upregulate utrophin in DMD models, showing functional improvements and therapeutic potential.

This study shows that CRISPRa-mediated upregulation of LAMA1 compensates for LAMA2 deficiency in MDC1A fibroblasts, reducing cell migration and related pathway activity.

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.

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

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.

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.

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.

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.

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

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

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.

The paper identifies a circulating transcriptomic biomarker in blood that correlates with FSHD clinical severity and validates it in muscle tissue.

This study shows that Drosophila Tropomodulin is essential for actin-dependent processes in myofiber assembly and maintenance, leading to myopathy-related phenotypes when disrupted.

The paper develops a method using the HSB color space to rapidly quantify muscle fibrosis and lysosomal activity in histological images, validated across animal models.

This study identifies posttranslational modifications of DUX4 that regulate its toxic function in FSHD and suggests potential therapeutic targets.

The paper shows CXCR7 promotes myoblast fusion at muscle fiber tips in chicken embryos through a beta1integrin-EGFR pathway, independent of Myomaker.