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Adiponectin and AdipoR1 regulate PGC-1α and mitochondria by Ca2+ and AMPK/SIRT1
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.
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…
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy.
- Y. Hayashi, C. Matsuda, I. Nishino
- Biology, MedicineThe Journal of clinical investigation
- 1 September 2009
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.
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.
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.
Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation.
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.
0261 Central core disease is due to RyR1 mutations in more than 90% of patients
Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca²⁺ channels.
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.
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.
Reduction of UDP-N-acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase Activity and Sialylation in Distal Myopathy with Rimmed Vacuoles*
The addition of ManNAc and NeuAc to primary cultured cells normalized sialylation levels, thus demonstrating the therapeutic potential of these compounds for this disease.
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
The hypothesis that one function of dysferlin may be to interact with caveolin-3 to subserve signaling functions of caveolae is suggested.