2011
DOI: 10.1016/j.nbd.2011.03.015
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Knockdown of MLC1 in primary astrocytes causes cell vacuolation: A MLC disease cell model

Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy, in the majority of cases caused by mutations in the MLC1 gene. MRI from MLC patients shows diffuse cerebral white matter signal abnormality and swelling, with evidence of increased water content. Histopathology in a MLC patient shows vacuolation of myelin, which causes the cerebral white matter swelling. MLC1 protein is expressed in astrocytic processes that are part of blood- and cerebrospinal fluid-brain barrie… Show more

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Cited by 63 publications
(92 citation statements)
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“…Expression of proteins allegedly associated or interacting with MLC113, 30, 31, 32, 33, 34 was evaluated by immunohistochemistry in 7‐month‐old mice. Compared to wild‐type animals, expression of the water channel aquaporin4 was redistributed along the cell bodies and processes of Glialcam ‐null astrocytes (Fig.…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Expression of proteins allegedly associated or interacting with MLC113, 30, 31, 32, 33, 34 was evaluated by immunohistochemistry in 7‐month‐old mice. Compared to wild‐type animals, expression of the water channel aquaporin4 was redistributed along the cell bodies and processes of Glialcam ‐null astrocytes (Fig.…”
Section: Resultsmentioning
confidence: 99%
“…Most previous studies on MLC1 function are based on patient leukocytes, artificial cell systems and scarcely available patient brain tissue obtained from biopsies and one autopsy 5, 6, 8, 9, 10, 15, 21, 30, 31, 32, 33, 34, 37. To allow research on MLC1 dysfunction in the intact brain, we previously developed an Mlc1 ‐null mouse that models the human disease 18.…”
Section: Discussionmentioning
confidence: 99%
“…It thus appears possible that GlialCAM mutations cause leukodystrophy by mislocalizing ClC-2 and/or by affecting its currents. By contrast, no effects of MLC1 on ClC-2 function, localization or abundance were found 12,16 . Thus, it remains unclear why patients with MLC1 mutations have the same symptoms as patients with recessive GLIALCAM mutations, who, based on these cell culture data, would be expected to be more severely affected.…”
mentioning
confidence: 89%
“…Comparable results were obtained when astrocyte metabolic activity was assessed after 72 h in contact with microglia-conditioned media (data not shown). Figure 5c shows the typical morphology [38] of the astrocytic cell culture. No alterations were identified after incubating astrocytes with the different microglia-conditioned media under investigation.…”
Section: Effect Of Microglia-conditioned Media On Primary Astrocyte Cmentioning
confidence: 99%