Articles with "mlc1" as a keyword



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A novel role for MLC1 in regulating astrocyte–synapse interactions

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Published in 2023 at "Glia"

DOI: 10.1002/glia.24368

Abstract: Loss of function of the astrocyte membrane protein MLC1 is the primary genetic cause of the rare white matter disease Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC), which is characterized by disrupted brain ion and water… read more here.

Keywords: role; mlc1 regulating; astrocyte synapse; mlc1 ... See more keywords
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GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy

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Published in 2018 at "Neurobiology of Disease"

DOI: 10.1016/j.nbd.2018.07.031

Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM genes. Previous work indicated that chloride currents mediated by the volume-regulated anion channel (VRAC) and… read more here.

Keywords: mlc1; megalencephalic leukoencephalopathy; vrac currents; glialcam mlc1 ... See more keywords
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Plasma membrane localization of MLC1 regulates cellular morphology and motility

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Published in 2019 at "Molecular Brain"

DOI: 10.1186/s13041-019-0540-6

Abstract: BackgroundMegalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare form of infantile-onset leukodystrophy. The disorder is caused primarily by mutations of MLC1 that leads to a series of phenotypic outcomes including vacuolation of myelin and… read more here.

Keywords: morphology motility; mlc1; cellular morphology; motility ... See more keywords
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Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy

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Published in 2020 at "Frontiers in Cellular Neuroscience"

DOI: 10.3389/fncel.2020.627887

Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder belonging to the group of vacuolating leukodystrophies. It is characterized by megalencephaly, loss of motor functions, epilepsy, and mild mental decline. In brain biopsies… read more here.

Keywords: mlc1; megalencephalic leukoencephalopathy; leukoencephalopathy insights; insights pathophysiology ... See more keywords
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Discussion on Transitional Shale Gas Accumulation Conditions from the Perspective of Source-Reservoir-Caprock Controlling Hydrocarbon: Examples from Permian Shanxi Formation and Taiyuan Formation in the Eastern Margin of Ordos Basin, NW China

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Published in 2023 at "Energies"

DOI: 10.3390/en16093710

Abstract: Transitional shale gas, rich in resources, is expected to be a practical contributor to the increase in shale gas reserves and production in China. Its exploration prospect has been demonstrated by several wells in the… read more here.

Keywords: shale gas; eastern margin; mlc1; shale ... See more keywords