SCI Abstract

search
+
Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes
Zebrafish and cellular models of SELENON-Congenital myopathy exhibit novel embryonic and metabolic phenotypes
SELENON-Congenital Myopathy (SELENON-CM) is a rare congenital myopathy caused by mutations of the SELENON gene characteriz...
Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion
Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion
Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame ...
Endurance exercise with reduced muscle glycogen content influences substrate utilization and attenuates acute mTORC1- and autophagic signaling in human type I and type II muscle fibers
Endurance exercise with reduced muscle glycogen content influences substrate utilization and attenuates acute mTORC1- and autophagic signaling in human type I and type II muscle fibers
Exercising with low muscle glycogen content can improve training adaptation, but the mechanisms underlying the muscular ad...
Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development
Correction: OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development
Marco Savarese and Bjarne Udd contributed equally to this work.Folkhälsan Research Center, Helsinki, FinlandAli Oghabian, ...
Pharmacology and macrophage modulation of HPGDS inhibitor PK007 demonstrate reduced disease severity in DMD-affected muscles of the mdx mouse model
Pharmacology and macrophage modulation of HPGDS inhibitor PK007 demonstrate reduced disease severity in DMD-affected muscles of the mdx mouse model
Duchenne Muscular Dystrophy (DMD) is an X-linked disease characterised by chronic inflammation, progressive muscle damage,...
Muscle degeneration in aging Drosophila flies: the role of mechanical stress
Muscle degeneration in aging Drosophila flies: the role of mechanical stress
Muscle wasting is a universal hallmark of aging which is displayed by a wide range of organisms, although the causes and m...
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model
Gene editing therapies in development for correcting out-of-frame DMD mutations in Duchenne muscular dystrophy aim to repl...
Isolation of small extracellular vesicles from regenerating muscle tissue using tangential flow filtration and size exclusion chromatography
Isolation of small extracellular vesicles from regenerating muscle tissue using tangential flow filtration and size exclusion chromatography
We have recently made the strikingly discovery that upon a muscle injury, Wnt7a is upregulated and secreted from new regen...
Exercise, disease state and sex influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model
Exercise, disease state and sex influence the beneficial effects of Fn14-depletion on survival and muscle pathology in the SOD1G93A amyotrophic lateral sclerosis (ALS) mouse model
Amyotrophic lateral sclerosis (ALS) is a devastating and incurable neurodegenerative disease. Accumulating evidence strong...
Metabolic pathways for removing reactive aldehydes are diminished in the skeletal muscle during heart failure
Metabolic pathways for removing reactive aldehydes are diminished in the skeletal muscle during heart failure
Muscle wasting is a serious complication in heart failure patients. Oxidative stress and inflammation are implicated in th...
Comparative in vivo characterization of newly discovered myotropic adeno-associated vectors
Comparative in vivo characterization of newly discovered myotropic adeno-associated vectors
Adeno-associated virus (AAV)-based gene therapy is a promising strategy to treat muscle diseases. However, this strategy i...
Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy
Cellular and molecular alterations to muscles and neuromuscular synapses in a mouse model of MEGF10-related myopathy
Loss-of-function mutations in MEGF10 lead to a rare and understudied neuromuscular disorder known as MEGF10-related myopat...
CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I
CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I
Myotonic Dystrophy type I (DM1) is the most common muscular dystrophy in adults. Previous reports have highlighted that ne...
Studying intramuscular fat deposition and muscle regeneration: insights from a comparative analysis of mouse strains, injury models, and sex differences
Studying intramuscular fat deposition and muscle regeneration: insights from a comparative analysis of mouse strains, injury models, and sex differences
Intramuscular fat (IMAT) infiltration, pathological adipose tissue that accumulates between muscle fibers, is a shared hal...
Targeted expression of heme oxygenase-1 in satellite cells improves skeletal muscle pathology in dystrophic mice
Targeted expression of heme oxygenase-1 in satellite cells improves skeletal muscle pathology in dystrophic mice
Adult muscle-resident myogenic stem cells, satellite cells (SCs), that play non-redundant role in muscle regeneration, are...
Restoring skeletal muscle mass as an independent determinant of liver fat deposition improvement in MAFLD
Restoring skeletal muscle mass as an independent determinant of liver fat deposition improvement in MAFLD
Cross-sectional studies have demonstrated the association of skeletal muscle mass with metabolic-associated fatty liver di...
Eldecalcitol prevents muscle loss and osteoporosis in disuse muscle atrophy via NF-κB signaling in mice
Eldecalcitol prevents muscle loss and osteoporosis in disuse muscle atrophy via NF-κB signaling in mice
We investigated the effect of eldecalcitol on disuse muscle atrophy. C57BL/6J male mice aged 6 weeks were randomly assigne...
The MuSK-BMP pathway maintains myofiber size in slow muscle through regulation of Akt-mTOR signaling
The MuSK-BMP pathway maintains myofiber size in slow muscle through regulation of Akt-mTOR signaling
Myofiber size regulation is critical in health, disease, and aging. MuSK (muscle-specific kinase) is a BMP (bone morphogen...
N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy
N-terminal titin fragment: a non-invasive, pharmacodynamic biomarker for microdystrophin efficacy
Multiple clinical trials to assess the efficacy of AAV-directed gene transfer in participants with Duchenne muscular dystr...
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
A knock down strategy for rapid, generic, and versatile modelling of muscular dystrophies in 3D-tissue-engineered-skeletal muscle
Human iPSC-derived 3D-tissue-engineered-skeletal muscles (3D-TESMs) offer advanced technology for disease modelling. Howev...
Replenishing NAD+ content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy
Replenishing NAD+ content reduces aspects of striated muscle disease in a dog model of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is an X-linked disease caused by mutations in DMD gene and loss of the protein dystrophi...
Electrical impedance myography detects dystrophin-related muscle changes in mdx mice
Electrical impedance myography detects dystrophin-related muscle changes in mdx mice
The lack of functional dystrophin protein in Duchenne muscular dystrophy (DMD) causes chronic skeletal muscle inflammation...
DNA methylation of insulin signaling pathways is associated with HOMA2-IR in primary myoblasts from older adults
DNA methylation of insulin signaling pathways is associated with HOMA2-IR in primary myoblasts from older adults
While ageing is associated with increased insulin resistance (IR), the molecular mechanisms underlying increased IR in the...
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy
The tropomyosin genes (TPM1-4) contribute to the functional diversity of skeletal muscle fibers. Since its discovery in 19...
Biomarkers for Duchenne muscular dystrophy progression: impact of age in the mdx tongue spared muscle
Biomarkers for Duchenne muscular dystrophy progression: impact of age in the mdx tongue spared muscle
Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy without an effective treatment, caused by mutatio...
Sox11 is enriched in myogenic progenitors but dispensable for development and regeneration of the skeletal muscle
Sox11 is enriched in myogenic progenitors but dispensable for development and regeneration of the skeletal muscle
Transcription factors (TFs) play key roles in regulating differentiation and function of stem cells, including muscle sate...
MuscleJ2: a rebuilding of MuscleJ with new features for high-content analysis of skeletal muscle immunofluorescence slides
MuscleJ2: a rebuilding of MuscleJ with new features for high-content analysis of skeletal muscle immunofluorescence slides
Histological analysis of skeletal muscle is of major interest for understanding its behavior in different pathophysiologic...
Fusion of myofibre branches is a physiological feature of healthy human skeletal muscle regeneration
Fusion of myofibre branches is a physiological feature of healthy human skeletal muscle regeneration
The occurrence of hyperplasia, through myofibre splitting, remains a widely debated phenomenon. Structural alterations and...
Development of muscle weakness in a mouse model of critical illness: does fibroblast growth factor 21 play a role?
Development of muscle weakness in a mouse model of critical illness: does fibroblast growth factor 21 play a role?
Critical illness is hallmarked by severe stress and organ damage. Fibroblast growth factor 21 (FGF21) has been shown to ri...
Age-related gene expression signatures from limb skeletal muscles and the diaphragm in mice and rats reveal common and species-specific changes
Age-related gene expression signatures from limb skeletal muscles and the diaphragm in mice and rats reveal common and species-specific changes
As a result of aging, skeletal muscle undergoes atrophy and a decrease in function. This age-related skeletal muscle weakn...
Load More
format_indent_increase