The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.

@article{Brignone2011TheBS,
  title={The beta1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis.},
  author={Maria Stefania Brignone and Angela Lanciotti and Pompeo Macioce and Gianfranco Macchia and Matteo Gaetani and Francesca Aloisi and Tamara Corinna Petrucci and Elena Ambrosini},
  journal={Human molecular genetics},
  year={2011},
  volume={20 1},
  pages={
          90-103
        }
}
Megalencephalic leucoencephalopathy with subcortical cysts (MLC) is a rare congenital leucodystrophy caused by mutations in MLC1, a membrane protein of unknown function. MLC1 expression in astrocyte end-feet contacting blood vessels and meninges, along with brain swelling, fluid cysts and myelin vacuolation observed in MLC patients, suggests a possible role for MLC1 in the regulation of fluid and ion homeostasis and cellular volume changes. To identify MLC1 direct interactors and dissect the… CONTINUE READING
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