Article
Regulation of the orphan G-protein-coupled receptor GPRC5B by MLC1 and the cell adhesion molecule GlialCAM in megalencephalic leukoencephalopathy.
The Journal of biological chemistry - 1 Jan 2026
Pont-Espinós Guillem, Pla-Casillanis Adrià, Ferigle Laura, Alonso-Gardón Marta, González-Subías Marc, Elorza-Vidal Xabier, Gaitán-Peñas Héctor, Errasti-Murugarren Ekaitz, Chevigne Andy, López-Hernández Tania, Ciruela Francisco, Estévez Raúl
Abstract excerpt
Megalencephalic leukoencephalopathy with subcortical cyst (MLC) is a rare leukodystrophy primarily caused by mutations in two genes: MLC1, encoding a membrane protein of unknown function, and GlialCAM, a cell adhesion molecule. Although MLC1 has been implicated in downregulating signaling pathways, its molecular mechanisms remain elusive. Recently, the orphan G-protein-coupled receptor GPRC5B was identified as a...
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