Mutations in GlialCAM Can Cause the Leukodystrophy MLC

1,090 views · Published 7 March 2012 · 6:18 · Indexed 31 October 2026

Channel: Cell Press · 2012 · Science & Technology

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Mutations in the cell adhesion molecule GlialCAM can cause the leukodystrophy MLC. Raul Estevez and colleagues find that GlialCAM acts as an auxiliary subunit of the chloride channel ClC-2 and can regulate both targeting of the channel to cell-cell junctions and its activity. Disease-causing mutations GLIALCAM lead to inappropriate localization of ClC-2, suggesting that defects in ClC-2 activity may contribute to MLC pathology.

For more details, see Jeworutzki et al., Neuron 73(5).

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