Muscle Physiology and Disorders

This study shows that the IRE1α/XBP1 signaling pathway promotes myoblast fusion in skeletal muscle by upregulating profusion genes like Myomaker, crucial for muscle regeneration.

This study identifies Deaf1 as a FOXO-regulated factor that controls muscle regeneration via autophagy, showing its critical role in muscle stem cell survival and regeneration.

The paper identifies Dusp13 and Dusp27 as MYOD target genes that regulate muscle stem cell transition from proliferation to differentiation during myogenesis.

The paper identifies gene expression differences in jerboa hindfoot muscle loss by comparing intra- and inter-species muscle data, revealing pathways linked to muscle atrophy and potential parallels with human muscle disorders.

This study shows SMCHD1 activates cell cycle genes in human myoblasts, promoting proliferation independently of DUX4, and identifies LAP2 as a key target gene.

This paper develops a cryopreservation method for myoblasts in paper-based scaffolds, enabling inter-laboratory studies of skeletal muscle health.

This paper introduces a novel mouse model of ovarian cancer cachexia showing that muscle weakness and mitochondrial stress occur before metastasis and atrophy in specific muscles.

The paper investigates how filamin protects myofibrils from contractile damage by altering its mechanosensory region in Drosophila indirect flight muscles.

This study shows that cofilin regulates postsynaptic actin organization and neuromuscular junction function in a Drosophila nemaline myopathy model, leading to impaired neurotransmission.

This study shows that dystrophin deficiency disrupts cell junction formation during embryonic myogenesis in human pluripotent stem cells.

This study shows that estrogen loss in female mdx mice reduces exercise capacity and mitochondrial metabolism, but estrogen replacement therapy can reverse these effects and upregulate Rbm20.

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

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 shows that intermittent glucocorticoid treatment rescues both energy and mass in aging-related sarcopenia via the PGC1alpha-Lipin1 pathway in muscle cells.

This study examines how resistance training affects denervated myofibers, senescent cells, and related proteins in middle-aged adults, finding increased muscle-nerve communication proteins but no significant changes in senescent cell content or SASP proteins.

This study shows HOIL-1L deficiency leads to cell cycle defects and fibrosis in myotubes and cardiomyocytes, contributing to myopathy and dilated cardiomyopathy.

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

This study creates a mouse model of a beta-dystroglycan mutation causing myopathy and altered blood-brain and blood-retinal barrier protein networks, but not severe developmental issues seen in humans.

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

This study shows that eccentric resistance training increases serial sarcomere number and improves mechanical function in young rats but causes impairments in older rats.

The paper identifies C18ORF25 interactors and characterizes its role in skeletal muscle physiology using mass spectrometry and single fiber proteomics.

This study shows that cadherin-catenin adhesion is essential for muscle stem cell niche anchorage and maintenance, as its disruption leads to stem cell depletion through premature differentiation and niche exit.

This study identifies fhl2b as a protective gene that ameliorates muscular dystrophy in zebrafish by rescuing muscle phenotype and improving survival.

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 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.