Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated the biology of any of these genes. was significantly associated with ET in a large genome-wide association study (GWAS) and was found to be overexpressed in ET cerebellar tissue. The objective of this study is to determine the effects of overexpressed in cerebellar DAOY cells. Here, we overexpressed RNA in human cerebellar DAOY cells and used an RNA-Seq approach to identify differentially expressed genes (DEGs) by comparing the transcriptome profile of these cells to one of the control DAOY cells. Pathway and gene ontology enrichment identified axon guidance, olfactory signaling, and calcium-voltage channels as significant. Additionally, we show that overexpressing affects transcript levels of previously implicated ET genes such as . Our results investigate the effects of overexpressed and suggest that it may be involved in relevant ET pathways and genes.
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http://dx.doi.org/10.3389/fgene.2020.00813 | DOI Listing |
Cancer Cell Int
January 2025
Institute of Molecular Genetics of the Czech Academy of Sciences, Vídeňská 1083, Prague 4, 142 20, Czech Republic.
Medulloblastoma, the most prevalent brain tumor among children, requires a comprehensive understanding of its cellular characteristics for effective research and treatment. In this study, we focused on DAOY, a permanent cell line of medulloblastoma, and investigated the unique properties of DAOY cells when cultured as floating multicellular aggregates called spheres, as opposed to adherent monolayers. Through our comprehensive analysis, we identified distinct characteristics associated with DAOY spheres.
View Article and Find Full Text PDFSci Rep
January 2025
Centre of New Technologies, University of Warsaw, Warsaw, Poland.
Regulation of the Hedgehog pathway activity may be supported by coactivators and corepresors of its main effectors- Gli transcription factors. While activation processes are well studied, repression mechanisms remain elusive. We identified chromatin remodelling complex Hira to interact with Gli3R protein, showed that its loss-of-function changes Hh pathway activity, and examined possible mechanism behind the observed effect.
View Article and Find Full Text PDFMol Imaging Biol
December 2024
Department of Pediatrics Research, University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX, USA.
Purpose: Clinical adoption of NK cell immunotherapy is underway for medulloblastoma and osteosarcoma, however there is currently little feedback on cell fate after administration. We propose magnetic particle imaging (MPI) may have applications for the quantitative detection of NK cells.
Procedures: Human-derived NK-92 cells were labeled by co-incubation with iron oxide nanoparticles (VivoTrax™) for 24 h then excess nanoparticles were washed with centrifugation.
Int J Med Sci
December 2024
Department of Ultrastructural Pathology, Beijing Neurosurgical Institute/ Beijing Tiantan Hospital, Capital Medical University, Beijing, 100070, China.
Drug Des Devel Ther
November 2024
Department of Pharmacy, Eye & ENT Hospital, Fudan University, Shanghai, 200031, People's Republic of China.
Background: Hyperactive Hedgehog (Hh) signaling initiates and drives the progression of various tumors. Despite the clinical success of Hh inhibitors targeting Smoothened (SMO), drug resistance, often stemming from SMO mutations, remains a formidable obstacle in cancer therapy. Here, we investigated the potential of imperatorin (IMP), a Chinese herbal medicine, to overcome drug resistance and revealed the potential mechanisms.
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