GPR37 Receptors and Megalencephalic Leukoencephalopathy with Subcortical Cysts
| Autor: | Adria? Pla-Casillanis 1, Laura Ferigle 1, Marta Alonso-Gardo?n 1, Efren Xicoy-Espaulella 1, Ekaitz Errasti-Murugarren 2, 3, Daniela Marazziti 4, Rau?l Este?vez 1 |
|---|---|
| Rok vydání: | 2022 |
| Předmět: |
MLC1
Malalties cerebrals Nervous System Malformations Catalysis Receptors G-Protein-Coupled Inorganic Chemistry GlialCAM Chloride Channels Humans Physical and Theoretical Chemistry GPRC5B Molecular Biology Spectroscopy GPR37L1 Cysts Organic Chemistry megalencephalic leukoencephalopathy with subcortical cysts Membrane Proteins General Medicine Megalencephaly Computer Science Applications Hereditary Central Nervous System Demyelinating Diseases Astrocytes GPR37 Neuròglia Brain diseases Neuroglia |
| Zdroj: | Dipòsit Digital de la UB Universidad de Barcelona International journal of molecular sciences 23 (2022): 5528–5540. doi:10.3390/ijms23105528 info:cnr-pdr/source/autori:Adria? Pla-Casillanis 1,+, Laura Ferigle 1,+, Marta Alonso-Gardo?n 1, Efren Xicoy-Espaulella 1, Ekaitz Errasti-Murugarren 2,3, Daniela Marazziti 4 and Rau?l Este?vez 1,3,*/titolo:GPR37 receptors and Megalencephalic Leukoencephalopathy with subcortical Cysts/doi:10.3390%2Fijms23105528/rivista:International journal of molecular sciences (Print)/anno:2022/pagina_da:5528/pagina_a:5540/intervallo_pagine:5528–5540/volume:23 |
| Popis: | 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 GlialCAM are involved in the pathology of multiple sclerosis. MLC1 and GLIALCAM genes encode for membrane proteins of unknown function, which has been linked to the regulation of different ion channels and transporters, such as the chloride channel VRAC (volume regulated anion channel), ClC-2 (chloride channel 2), and connexin 43 or the Na+/K+-ATPase pump. However, the mechanisms by which MLC proteins regulate these ion channels and transporters, as well as the exact function of MLC proteins remain obscure. It has been suggested that MLC proteins might regulate signalling pathways, but the mechanisms involved are, at present, unknown. With the aim of answering these questions, we have recently described the brain GlialCAM interactome. Within the identified proteins, we could validate the interaction with several G protein-coupled receptors (GPCRs), including the orphan GPRC5B and the proposed prosaposin receptors GPR37L1 and GPR37. In this review, we summarize new aspects of the pathophysiology of MLC disease and key aspects of the interaction between GPR37 receptors and MLC proteins. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|