Associated Papers
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature.
Passchier EMJ et al.
Frontiers in Genetics, 2024
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy.
Bosch A et al.
Frontiers in Cellular Neuroscience, 2020
Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Gao C et al.
Frontiers in Genetics, 2019
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
Cao B et al.
Plos One, 2016
MLC1 protein: a likely link between leukodystrophies and brain channelopathies.
Brignone MS et al.
Frontiers in Cellular Neuroscience, 2015
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sirisi S et al.
Human Molecular Genetics, 2014
[Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
Guo MM et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 functionally cooperates with the TRPV4 cation channel to activate the response of astrocytes to osmotic stress: dysregulation by pathological mutations.
Lanciotti A et al.
Human Molecular Genetics, 2012
Functional studies of MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts.
Xie H et al.
Plos One, 2012
Molecular mechanisms of MLC1 and GLIALCAM mutations in megalencephalic leukoencephalopathy with subcortical cysts.
López-Hernández T et al.
Human Molecular Genetics, 2011
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
Wang J et al.
Journal of Human Genetics, 2011
[Effects on astrocytic function from MLC1 gene mutation with megalencephalic leukoencephalopathy with subcortical cysts].
Wang JM et al.
Sheng Li Ke Xue Jin Zhan [progress in Physiology], 2010
Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1.
Ilja Boor PK et al.
Human Mutation, 2006
Novel mutations of the MLC1 gene in Turkish patients.
Yüzbaşioğlu A et al.
European Journal of Medical Genetics, 0