Article
Identification of the GlialCAM interactome: the G protein-coupled receptors GPRC5B and GPR37L1 modulate megalencephalic leukoencephalopathy proteins.
Human molecular genetics - 12 Aug 2021
Alonso-Gardón Marta, Elorza-Vidal Xabier, Castellanos Aida, La Sala Gina, Armand-Ugon Mercedes, Gilbert Alice, Di Pietro Chiara, Pla-Casillanis Adrià, Ciruela Francisco, Gasull Xavier, Nunes Virginia, Martínez Albert, Schulte Uwe, Cohen-Salmon Martine, Marazziti Daniela, Estévez Raúl
Abstract excerpt
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 that have been linked to the regulation of different chloride channels such as the ClC-2 and VRAC. To gain insight into the role of MLC proteins, we have determined the brain...
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