Megalencephalic leukoencephalopathy with cysts: the Glialcam‐null mouse model


OBJECTIVE Megalencephalic leukoencephalopathy with cysts (MLC) is a genetic infantile-onset disease characterized by macrocephaly and white matter edema due to loss of MLC1 function. Recessive mutations in either MLC1 or GLIALCAM cause the disease. MLC1 is involved in astrocytic volume regulation; GlialCAM ensures the correct membrane localization of MLC1… (More)
DOI: 10.1002/acn3.405


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@inproceedings{Bugiani2017MegalencephalicLW, title={Megalencephalic leukoencephalopathy with cysts: the Glialcam‐null mouse model}, author={Marianna Bugiani and Mohit L. Dubey and Marjolein Breur and Nienke L. Postma and Marien P. Dekker and Timo ter Braak and Ursula Boschert and Truus E. M. Abbink and Huibert D. Mansvelder and Rogier Min and Jan R. T. van Weering and Marjo S. van der Knaap}, booktitle={Annals of clinical and translational neurology}, year={2017} }