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Dystrophin: The protein product of the duchenne muscular dystrophy locus
TLDR
The identification of the mdx mouse as an animal model for DMD has important implications with regard to the etiology of the lethal DMD phenotype, and the protein dystrophin is named because of its identification via the isolation of the Duchenne muscular dystrophy locus. Expand
Glucose restriction inhibits skeletal myoblast differentiation by activating SIRT1 through AMPK-mediated regulation of Nampt.
TLDR
These experiments reveal that AMPK, Nampt, and SIRT1 are the molecular components of a functional signaling pathway that allows skeletal muscle cells to sense and react to nutrient availability. Expand
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
TLDR
The 14 kb human Duchenne muscular dystrophy cDNA corresponding to a complete representation of the fetal skeletal muscle transcript has been cloned and the majority of deletions are concentrated in a single genomic segment corresponding to only 2 kb of the transcript. Expand
Expression Profiling in the Muscular Dystrophies Identification of Novel Aspects of Molecular Pathophysiology
TLDR
It is hypothesize that the abnormal Ca2+ influx in dystrophin- and α-sarcoglycan–deficient myofibers leads to altered developmental programming of developing and regenerating my ofibers, and that primary genetic defects can be identified by a reduction in the corresponding RNA. Expand
Sir2 regulates skeletal muscle differentiation as a potential sensor of the redox state.
TLDR
Results indicate that Sir2 regulates muscle gene expression and differentiation by possibly functioning as a redox sensor in response to exercise, food intake, and starvation, Sir2 may sense modifications of the redox state and promptly modulate gene expression. Expand
The RNA helicases p68/p72 and the noncoding RNA SRA are coregulators of MyoD and skeletal muscle differentiation.
TLDR
Reducing the levels of p68/p72 proteins impaired recruitment of the TATA binding protein TBP; RNA polymerase II; and the catalytic subunit of the ATPase SWI/SNF complex, Brg-1, and hindered chromatin remodeling. Expand
Variability in muscle size and strength gain after unilateral resistance training.
TLDR
Men and women exhibit wide ranges of response to resistance training, with some subjects showing little to no gain, and others showing profound changes, increasing size by over 10 cm and doubling their strength. Expand
ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.
TLDR
Associations between ACTN3 genotype and muscle size and elbow flexor isometric and dynamic strength in a large group of men and women enrolled in a 12-wk standardized elbowflexor/extensor resistance training program of the nondominant arm were studied. Expand
Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy.
TLDR
These data show the clinical consequences of both quantitative alterations (in Duchenne's and intermediate dystrophy) in a single protein, and the biochemical assay for dystrophin should prove helpful in delineating myopathies that overlap clinically with DuchenNE's and Becker's Dystrophies and shows promise as an accurate diagnostic tool. Expand
ACTN3 and MLCK genotype associations with exertional muscle damage.
TLDR
Results show that variations in genes coding for specific myofibrillar proteins influence phenotypic responses to muscle damaging exercise. Expand
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