GlialCAM/MLC1 modulates LRRC8/VRAC currents in an indirect manner: Implications for megalencephalic leukoencephalopathy
Sign Up to like & getrecommendations! Published in 2018 at "Neurobiology of Disease"
DOI: 10.1016/j.nbd.2018.07.031
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy caused by mutations in either MLC1 or GLIALCAM genes. Previous work indicated that chloride currents mediated by the volume-regulated anion channel (VRAC) and… read more here.
Keywords: mlc1; megalencephalic leukoencephalopathy; vrac currents; glialcam mlc1 ... See more keywords
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins
Sign Up to like & getrecommendations! Published in 2021 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddab155
Abstract: Abstract Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC) is a type of vacuolating leukodystrophy, which is mainly caused by mutations in MLC1 or GLIALCAM. The two MLC-causing genes encode for membrane proteins of yet unknown function… read more here.
Keywords: megalencephalic leukoencephalopathy; mlc proteins; glialcam interactome; protein coupled ... See more keywords
Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Child Neurology"
DOI: 10.1177/08830738221078683
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic form of cerebral white matter disease whose clinicoradiologic correlation has not been completely understood. In this study, we investigated the association between clinical and brain… read more here.
Keywords: subcortical cysts; leukoencephalopathy subcortical; clinicoradiologic correlation; megalencephalic leukoencephalopathy ... See more keywords
Bipolar disorder in megalencephalic leukoencephalopathy with subcortical cysts: a case report
Sign Up to like & getrecommendations! Published in 2020 at "BMC Psychiatry"
DOI: 10.1186/s12888-020-02750-6
Abstract: Background Megalencephalic leukoencephalopathy with subcortical cysts (MLC), or Van der Knaap disease, is a rare spongiform leukodystrophy that is characterized by macrocephaly, progressive motor dysfunction, and mild mental retardation. It is very rare for mental… read more here.
Keywords: megalencephalic leukoencephalopathy; subcortical cysts; case; bipolar disorder ... See more keywords
Leucoencefalopatía megalencefálica con quistes: importancia de la descripción clínica en la era genética
Sign Up to like & getrecommendations! Published in 2020 at "Revista De Neurologia"
DOI: 10.33588/rn.7110.2020520
Abstract: INTRODUCTION Megalencephalic leukoencephalopathy with cysts is a leukodystrophy of genetic origin that produces an alteration in the water and ion homeostasis in the brain, generating vacuolar forms and chronic oedema in the white matter with… read more here.
Keywords: megalencef lica; progressive macrocephaly; leukoencephalopathy cysts; megalencephalic leukoencephalopathy ... See more keywords
Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2020.627887
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic disorder belonging to the group of vacuolating leukodystrophies. It is characterized by megalencephaly, loss of motor functions, epilepsy, and mild mental decline. In brain biopsies… read more here.
Keywords: mlc1; megalencephalic leukoencephalopathy; leukoencephalopathy insights; insights pathophysiology ... See more keywords
GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23105528
Abstract: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of vacuolating leukodystrophy (white matter disorder), which is mainly caused by defects in MLC1 or glial cell adhesion molecule (GlialCAM) proteins. In addition, autoantibodies to… read more here.
Keywords: subcortical cysts; leukoencephalopathy subcortical; receptors megalencephalic; megalencephalic leukoencephalopathy ... See more keywords