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Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca2+ and AMPK/SIRT1
TLDR
Evidence is provided that adiponectin induces extracellular Ca2+ influx by AdipoR1, which was necessary for subsequent activation of Ca2-/calmodulin-dependent protein kinase kinase β (CaMKKβ), AMPK and SIRT1, increased expression and decreased acetylation of peroxisome proliferator-activated receptor γ coactivator-1α (PGC-1 α), and increased mitochondria in myocytes.
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Two endoplasmic reticulum-associated degradation (ERAD) systems for the novel variant of the mutant dysferlin: ubiquitin/proteasome ERAD(I) and autophagy/lysosome ERAD(II).
Dysferlin is a type-II transmembrane protein and the causative gene of limb girdle muscular dystrophy type 2B and Miyoshi myopathy (LGMD2B/MM), in which specific loss of dysferlin labeling has been…
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Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
TLDR
It is suggested that clinical features observed in the patients with PTRF mutations are associated with a secondary deficiency of caveolins, and these features are related to generalized lipodystrophy and muscular dystrophy.
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Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
TLDR
It is demonstrated that mutations in the gene encoding L MOD3 underlie congenital myopathy and demonstrate that LMOD3 is essential for the organization of sarcomeric thin filaments in skeletal muscle.
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Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.
TLDR
The global gene expression profiling of mature muscle tissue presented here provides the first insight into an FSHD-specific defect in myogenic differentiation, and may not arise from a position effect mechanism as has been previously suggested, but from a global effect on gene regulation.
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0261 Central core disease is due to RyR1 mutations in more than 90% of patients
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Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
TLDR
The results indicate that STIM1-independent activation of CRAC channels induced by dominant mutations in ORAI1 cause altered Ca(2+) homeostasis, resulting in TAM with hypocalcemia.
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Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
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Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles*
TLDR
The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.
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The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
TLDR
The hypothesis that one function of dysferlin may be to interact with caveolin-3 to subserve signaling functions of caveolae is suggested.
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