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https://www.selleckchem.com/products/gcn2-in-1.html The proband in this study was a 16-year-old Mexican girl with psychotic and dyskinetic symptoms, and brain MRI showed at the basal ganglia the 'eye-of-the-tiger' sign. DNA direct sequencing identified a novel compound heterozygous mutation in the PANK2 gene. The diagnosis of pantothenate kinase-associated neurodegeneration (PKAN) disorder was made. This novel change increases the pool of PANK2 mutations. It supports the published data suggesting that PANK2 plays a significant role in patients expressing psychiatric phenotypes in the PKAN syndrome. When a patient presents with dyskinesia and psychiatric symptoms, PANK2 should be investigated as a possible diagnosis, and genetic consultation should be recommended.Circular RNAs (circRNAs) have been implicated in the progression of pediatric acute myeloid leukemia (AML). Although circ_0004136 has been found to play a crucial role in AML, our understanding of its molecular mechanism remains very limited. The levels of circ_0004136, miR-570-3p and tetraspanin 3 (TSPAN3) were determined by quantitative real-time PCR or western blot. Cell viability, migration, invasion, cell cycle and apoptosis were detected using the Cell Counting Kit-8, transwell and flow cytometry assays. Targeted relationships among circ_0004136, miR-570-3p and TSPAN3 were validated by dual-luciferase reporter and RNA immunoprecipitation assays. Our data showed that circ_0004136 could be transmitted by exosomes, and exosomal circ_0004136 was highly expressed in AML serum and cells. Circ_0004136 was unusually stable and mainly localized in the cytoplasm. Circ_0004136 knockdown mediated by exosomes hampered AML cell viability, cell cycle progression, migration and invasion, and promoted cell apoptosis. Moreover, circ_0004136 worked as a sponge of miR-570-3p and TSPAN3 was a functional target of miR-370-3p in AML cells. The suppression of circ_0004136 knockdown mediated by exosomes on AML cell malignant p
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