Disease-associated GPR56 Mutations Cause Bilateral Frontoparietal Polymicrogyria via Multiple Mechanisms

Loss-of-function mutations in the gene encoding G protein-coupled receptor 56 (GPR56) lead to bilateral frontoparietal polymicrogyria (BFPP), an autosomal recessive disorder affecting brain development. The GPR56 receptor is a member of the adhesion-GPCR family characterized by the chimeric composit...

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Detalhes bibliográficos
Main Authors: Chiang, Nien-Yi, Hsiao, Cheng-Chih, Huang, Yi-Shu, Chen, Hsin-Yi, Hsieh, I-Ju, Chang, Gin-Wen, Lin, Hsi-Hsien
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2011
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3077623/
https://ncbi.nlm.nih.gov/pubmed/21349848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.183830
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