Muscle Physiology and Disorders

This study shows aging impairs muscle regeneration by promoting fibro/fatty degeneration and inhibiting inflammation resolution through reduced Periostin in fibro/adipogenic progenitors.

This study compares bulk and single-cell transcriptomes of FSHD2 to identify differentially expressed genes and pathways, finding that single-cell analysis better reveals muscle-specific gene regulation.

The paper compares transcriptional responses to resistance exercise in rats and mice, finding conserved pathways but species-specific differences in energy metabolism.

This study identifies the unique role of Runx1 in skeletal muscle differentiation and regeneration through its ETS interaction domain, distinguishing it from Runx2.

The paper generates a mouse model with an in-frame deletion of exons 52-55 in Dmd, mimicking Becker Muscular Dystrophy, and characterizes its long-term effects on muscle and heart function.

This study identifies pro-inflammatory macrophages as a key factor impairing skeletal muscle regeneration in ischemic-damaged limbs by inducing premature differentiation of satellite cells.

This study identifies biallelic HMGCS1 variants as a novel cause of rigid spine syndrome, showing hypomorphic effects through functional and clinical analyses.

This study identifies cortactin as an interactor of dystrobrevin-1, showing its role in neuromuscular junction morphology but not muscle strength.

This study shows that DOCK3 is essential for skeletal muscle regeneration and glucose metabolism, with its loss causing metabolic dysfunction and impaired muscle repair.

The paper identifies miR-155-5p-induced gene expression changes in muscle atrophy and links them to disease-related pathways in skeletal muscle disorders.

This study evaluates how exon skipping efficiency by antisense oligonucleotides in DMD is influenced by intron retention time and AON position within the exon.

The paper uses nanopore sequencing to analyze D4Z4 methylation gradients in FSHD, revealing length-dependent methylation patterns and CpG methylation dynamics in D4Z4 arrays.

The paper uses spatial transcriptomics in DMD mouse models to identify gene expression signatures linked to histopathological changes in skeletal muscle.

This study shows that loss of dcst2 in zebrafish does not cause muscle abnormalities, but is associated with weight gain and male infertility.

This study shows that stac3 knockout in zebrafish mimics early life lipid overload and muscle weakness seen in Native American myopathy.

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

This study investigates the role of sympathetic innervation in neonatal muscle growth and contractures, finding it is not required or sufficient for contracture formation but influences muscle width in a sex-specific manner.

This study examines adult stem cell fusion capacity in CP patients, finding higher fusion in Medial Gastrocnemius muscle compared to typically developing children, with reduced potency in Semitendinosus muscle.

This study identifies biphasic transcriptional changes in female skeletal muscle during cancer cachexia, distinct from males, with sex-specific gene expression patterns and implications for therapeutic targets.

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.

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.

This study shows that Scx-positive tendon cells are essential for proper muscle attachment and patterning in mouse embryos, revealing a novel tissue-tissue interaction in musculoskeletal development.

This study identifies Styxl2 as a regulator of de novo sarcomere assembly by promoting degradation of non-muscle myosin IIs through autophagy.

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

This study identifies Osr1 as essential for FAPs to support muscle regeneration by regulating communication with MuSCs and macrophages, and its loss leads to impaired regeneration and fibrosis.

This study identifies Site-1 Protease (S1P) as a negative regulator of muscle mass and mitochondrial metabolism by controlling the TGF-β target gene MSS51.