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A 3D skeletal muscle system for disease modelling and secretome profiling of Duchenne muscular dystrophy - Skeletal Muscle Skeletal Muscle - Duchenne muscular dystrophy (DMD) is a severe X-linked genetic disease characterized by progressive muscle degeneration, exhaustion of the muscle stem cell pool, and extensive...

New #SkeletalMuscle paper: A 3D skeletal muscle system for disease modelling and secretome profiling of Duchenne muscular dystrophy. #Myoblue tinyurl.com/24wwmsvt

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BRD4 directs myofiber identity and metabolic adaptation through CHD4 cooperation - Nature Communications Skeletal muscle fiber type is key to metabolic health. Zhou et al. reveal that the protein BRD4 dictates muscle fiber identity, blocking it promotes energy-burning slow fibers and prevents obesity in mice, offering a new target for metabolic disease.

New #NatureComms paper: BRD4 directs myofiber identity and metabolic adaptation through CHD4 cooperation. #Myoblue tinyurl.com/2pe62a5t

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Myonuclear Domain‐Associated and Central Nucleation‐Dependent Spatial Restriction of Dystrophin Protein Expression Background The restoration of uniformly distributed dystrophin protein expression is an important consideration for the development of advanced therapeutics for Duchenne muscular dystrophy (DMD). ...

Interesting new #JCSM paper from Thomas Roberts & colleagues: Myonuclear Domain-Associated and Central Nucleation-Dependent Spatial Restriction of Dystrophin Protein Expression. #Myoblue tinyurl.com/2j48etsf

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Fibro-adipogenic progenitor cells from murine SMA muscles are intrinsically adipogenic | PNAS Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. Although classically viewed as a neurogenic dis...

Congrats to Beth Barton and team on their new #PNAS paper: Fibro-adipogenic progenitor cells from murine SMA muscles are intrinsically adipogenic. #Myoblue tinyurl.com/4kwzbjjp

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A Pax7::Foxo1 conditional mouse strain - Skeletal Muscle Skeletal Muscle - The PAX7::FOXO1 subtype of alveolar rhabdomyosarcoma (aRMS) is both understudied and an unmet clinical need. The biology of PAX7::FOXO1 aRMS is significantly different than...

New #SkeletalMuscle paper: A Pax7::Foxo1 conditional mouse strain. #Myoblue tinyurl.com/sex3ec52 #aRMS

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CtBP1 sustains activity-dependent muscle properties and dampens synaptic, contractile and metabolic changes triggered by denervation - Skeletal Muscle Skeletal Muscle - Denervation triggers dramatic atrophy of skeletal muscle, accompanied by synaptic, contractile and metabolic changes. Several factors were shown to contribute to genetic...

New #SkeletalMuscle paper: CtBP1 sustains activity-dependent muscle properties and dampens synaptic, contractile and metabolic changes triggered by denervation. #Myoblue tinyurl.com/2rv75k4f

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Integrin αVβ5 regulates myoblast proliferation and differentiation in sarcopenia mice treated with FNDC5 gene delivery - Skeletal Muscle Skeletal Muscle - Irisin which is encoded by FNDC5 gene, has emerged as a promising therapeutic candidate for alleviating sarcopenia; however, its long-term therapeutic application in muscle...

New #SkeletalMuscle paper: Integrin αVβ5 regulates myoblast proliferation and differentiation in sarcopenia mice treated with FNDC5 gene delivery. #Myoblue tinyurl.com/b5af287m

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Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity - Nature Communications This multi-cohort study reports genetic variants in myostatin associated with increased muscle mass, strength, and reduced adiposity. These findings support long-term myostatin blockade for muscle pre...

New #NatureComms paper: Humans with function-disrupting variants in the myostatin gene (MSTN) have increased skeletal muscle mass and strength, and less adiposity. #Myoblue tinyurl.com/mhsksrte

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Delpacibart Etedesiran Improves the Molecular Pathology of Myotonic Dystrophy Type 1 in the Phase 1/2 MARINA® Study Del-desiran, an antibody-oligonucleotide conjugate targeting DMPK mRNA, reduced toxic DMPK transcript levels, restored functional MBNL, and corrected mis-splicing in patients with myotonic dystrophy 1...

New #MolTherapy paper: Delpacibart Etedesiran Improves the Molecular Pathology of Myotonic Dystrophy Type 1 in the Phase 1/2 MARINA® Study. #Myoblue tinyurl.com/3kbu3ty3

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AAV-Mediated Gene Transfer of a Novel Microdystrophin Ameliorates Pathology and Enhances Muscle Function in a Mouse Model of DMD This study evaluates preclinical efficacy of RGX-202, an AAV8-microdystrphin with extended CT-domain undergoing clinical investigations for Duchenne Muscular Dystrophy (NCT05693142), in mdx mice. Hist...

New #MolTherNucAcids paper: AAV-Mediated Gene Transfer of a Novel Microdystrophin Ameliorates Pathology and Enhances Muscle Function in a Mouse Model of DMD. #Myoblue tinyurl.com/mrxhvrhm

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The picture shows some figures from the manuscript

The picture shows some figures from the manuscript

New preprint alert from our lab 🚨
Lipoxins Regulate Intercalated Disk-Associated Signaling and Immune Remodeling in Dilated Cardiomyopathy

www.biorxiv.org/content/10.6...

#dilated #cardiomyopathy #DCM #cardiac #inflammation #sex-specificity #lipoxin #intercalated-disk #myoblue

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Prostaglandin E2 receptor EP2 is indispensable for maintenance of skeletal muscle stem cells Abstract. Muscle satellite cells are adult muscle stem cells indispensable for growth and regeneration of postnatal skeletal muscle. Notch plays a central

New #StemCells paper: Prostaglandin E2 receptor EP2 is indispensable for maintenance of skeletal muscle stem cells. #Myoblue tinyurl.com/3xu8ryc6

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https://www.nature.com/articles/s43587-026-01075-5

New #NatureAging paper: Exercise alleviates cognitive dysfunction in Alzheimer’s disease mice via skeletal muscle-derived extracellular vesicles that enhance plaque clearance by microglia. #Myoblue tinyurl.com/3r9adfb2

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Methodological framing in muscle morphology and mechanics: aligning experimental protocols with scientific questions - Journal of Muscle Research and Cell Motility Journal of Muscle Research and Cell Motility -

New mini-review by Cesanelli & colleagues:

Methodological framing in muscle morphology and mechanics: aligning experimental protocols with scientific questions

doi.org/10.1007/s109...

#myoblue #muscle #morphology #mechanics #experimental-protocols

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Short-duration electrical pulse stimulation induces myokines and mitochondrial adaptations in C2C12 myotubes - Journal of Muscle Research and Cell Motility Journal of Muscle Research and Cell Motility - Physical activity induces rapid myokine and metabolic responses in skeletal muscle, yet the immediate cellular adaptations to short-duration...

New researcj article by Fang & colleagues:

Short-duration electrical pulse stimulation induces myokines and mitochondrial adaptations in C2C12 myotubes.

doi.org/10.1007/s109...

#myoblue #C2C12 #myokines #mitochondria

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Assessing muscle morphology and mechanics: one protocol does not fit all - Journal of Muscle Research and Cell Motility Journal of Muscle Research and Cell Motility -

New article alert! Mini-Review by Roger Kissane:
Assessing muscle morphology and mechanics-one protocol does not fit all.

doi.org/10.1007/s109...

#myoblue #muscle-mechanics #fibre-characterisation

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Preclinical Evaluation of INS1201 AAV9-Micro-Dystrophin Via CSF Administration as a Potential Therapy for Duchenne Muscular Dystrophy INS1201 is an investigational adeno-associated virus 9–micro-dystrophin gene transfer therapy under development as a potential treatment for Duchenne muscular dystrophy (DMD). Administered into the ce...

New #moltherapyadvances paper: Preclinical Evaluation of INS1201 AAV9-Micro-Dystrophin Via CSF Administration as a Potential Therapy for Duchenne Muscular Dystrophy. #Myoblue tinyurl.com/3633sxmx

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AUF1 therapy blocks atrophy, promotes regeneration, re-innervation and strength for severe muscle injury Abbadi, Schneider and colleagues demonstrate that systemic or local delivery of RNA binding protein AUF1 to muscle, before or after severe muscle injury, strongly reduces atrophy, accelerates muscle r...

New #MolTherapy paper: AUF1 therapy blocks atrophy, promotes regeneration, re-innervation and strength for severe muscle injury. #Myoblue tinyurl.com/3bmnxr8d

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Functional and structural pathologies in skeletal muscle of a rat model of Duchenne muscular dystrophy - Skeletal Muscle Background Duchenne muscular dystrophy (DMD) is a lethal pediatric degenerative muscle disease for which there is no cure. Robust preclinical models that recapitulate major clinical features of DMD ar...

New #SkeletalMuscle paper: Functional and structural pathologies in skeletal muscle of a rat model of Duchenne muscular dystrophy. #Myoblue tinyurl.com/bdxjm3ne

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JCI - Distinct HIF1α and HIF2α functions control skeletal muscle metabolism and erythropoiesis

New #jclinicalinvest paper: Distinct HIF1α and HIF2α functions control skeletal muscle metabolism and erythropoiesis. #Myoblue tinyurl.com/my447mjx

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JCI - PDGFRβ signaling restrains myocyte function to limit the regenerative capacity of skeletal muscle

Nice new work in #jclinicalinvest from @athalackm.bsky.social #BenCosgrove and #DanielBerry: PDGFRbeta signaling restrains myocyte function to limit the regenerative capacity of skeletal muscle. #Myoblue tinyurl.com/yc69zzrb

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FGF2 rescues denervation-induced muscle atrophy in Ambystoma mexicanum - Skeletal Muscle Skeletal Muscle - Denervation occurs as a consequence of disease or injury and is typically accompanied by skeletal muscle atrophy. Although the relationship between nerves and muscle atrophy has...

New #SkeletalMuscle paper: FGF2 rescues denervation-induced muscle atrophy in Ambystoma mexicanum. #Myoblue tinyurl.com/ybnpjufd

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Safety and efficacy of fordadistrogene movaparvovec in ambulatory participants with Duchenne muscular dystrophy (CIFFREO): a phase 3, double-blind, randomised, placebo-controlled study The study did not meet its primary efficacy endpoint. Based on the efficacy and safety data from this phase 3 study, the benefit–risk profile of fordadistrogene movaparvovec was determined to be negat...

New #TheLancetNeuro paper: Safety and efficacy of fordadistrogene movaparvovec in ambulatory participants with Duchenne muscular dystrophy (CIFFREO): a phase 3, double-blind, randomised, placebo-controlled study. #Myoblue tinyurl.com/3jyb89va

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Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1 We address the lack of optimized antimiRs to upregulate MBNL1 in myotonic dystrophy. Through in vitro and in vivo screening and oleic acid conjugation, we identify antimiR leads that boost MBNL1, corr...

New #AJHG paper: Enhanced muscle uptake of chemically optimized miR-23b antisense oligonucleotides as lead compounds for myotonic dystrophy type 1. #Myoblue tinyurl.com/3f64wpdt

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AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy Purified diet feeding and AAV8 therapy are precipitants of cholestatic liver injury in a mouse model of X-linked myotubular myopathy.

Congrats to Jim Dowling and colleagues for their new #ScienceTM paper: AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy. #Myoblue tinyurl.com/ctdha2wc

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https://www.nature.com/articles/s41598-026-40047-y

New #SciReports paper: MyoFuse is a fully AI-based workflow for automated quantification of skeletal muscle cell fusion in vitro. #Myoblue tinyurl.com/4tjbcnvd

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SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions Two different 4-base-pair deletions in SMN1 that cause a similar frameshift led to false-positive SMA newborn screening results. Integrating genomic, functional, and population data clarified diagnosi...

New #AJHG paper: SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions. #Myoblue tinyurl.com/2ak3suf4

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M-cadherin regulates the formation of adherens junctions and secondary myofibers during fetal myogenesis to determine adult myofiber number and muscle mass Golann and colleagues found that predicted loss-of-function variants in the CDH15 gene (encoding M-cadherin) were associated with reduced lean mass. Similarly, CDH15KO mice displayed reduced muscle ma...

New #stemcellreports paper: M-cadherin regulates the formation of adherens junctions and secondary myofibers during fetal myogenesis to determine adult myofiber number and muscle mass. #Myoblue tinyurl.com/mubht234

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Unveiling FLNC variants: iPSC-derived myogenic cells as a model to study disease mechanisms - Skeletal Muscle Background Filaminopathies, caused by pathogenic FLNC variants, are rare neuromuscular disorders characterized by protein aggregation, z-disk pathology and lead to progressive muscle weakness and/or c...

New #SkeletalMuscle paper: Unveiling FLNC variants: iPSC-derived myogenic cells as a model to study disease mechanisms. #Myoblue tinyurl.com/3tmzbsu5

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New bioRxiv preprint from Pascal Maire’s group is out! I’m happy to have made a small contribution and to be included as a co-author.
“c-MAF transduces motor neuron firing to sustain fast-glycolytic myofibers and neuromuscular junctions” www.biorxiv.org/content/10.6...
#myoblue

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