Neurobiology of Disease GPR56 Regulates Pial Basement Membrane Integrity and Cortical Lamination
نویسندگان
چکیده
Shihong Li,1 Zhaohui Jin,1* Samir Koirala,2* Lihong Bu,1* Lei Xu,4 Richard O. Hynes,4 Christopher A. Walsh,3 Gabriel Corfas,2 and Xianhua Piao1 1Division of Newborn Medicine, Department of Medicine, 2Neurobiology Program, Children’s Hospital Boston, Harvard Medical School, 3Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, and 4Howard Hughes Medical Institute, Center for Cancer Research, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139
منابع مشابه
GPR56 regulates pial basement membrane integrity and cortical lamination.
GPR56 is a member of the family of adhesion G-protein-coupled receptors that have a large extracellular region containing a GPS (G-protein proteolytic site) domain. Loss-of-function mutations in the GPR56 gene cause a specific human brain malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP is a radiological diagnosis and its histopathology remains unclear. This study demons...
متن کاملG protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination.
GPR56, an orphan G protein-coupled receptor (GPCR) from the family of adhesion GPCRs, plays an indispensable role in cortical development and lamination. Mutations in the GPR56 gene cause a malformed cerebral cortex in both humans and mice that resembles cobblestone lissencephaly, which is characterized by overmigration of neurons beyond the pial basement membrane. However, the molecular mechan...
متن کاملGPR56 Functions Together with α3β1 Integrin in Regulating Cerebral Cortical Development
Loss of function mutations in GPR56, which encodes a G protein-coupled receptor, cause a specific human brain malformation called bilateral frontoparietal polymicrogyria (BFPP). Studies from BFPP postmortem brain tissue and Gpr56 knockout mice have previously showed that GPR56 deletion leads to breaches in the pial basement membrane (BM) and neuronal ectopias during cerebral cortical developmen...
متن کاملGPR56-regulated granule cell adhesion is essential for rostral cerebellar development.
Mutations in GPR56, an orphan G-protein-coupled receptor (GPCR), cause bilateral frontoparietal polymicrogyria (BFPP), a disorder characterized by mental retardation, seizures, motor developmental delay, and ataxia. BFPP patients have structural abnormalities of the cerebral cortex, cerebellum, and pons. To shed light on the function of GPR56 and the anatomical and behavioral defects underlying...
متن کاملLoss of Col3a1, the Gene for Ehlers-Danlos Syndrome Type IV, Results in Neocortical Dyslamination
It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS) gene, is one of the major constituents of the pial basement membrane (BM) and serves as the ligand for GPR56. Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe menta...
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تاریخ انتشار 2008