G protein-coupled receptor-dependent development of human frontal cortex - PubMed (original) (raw)

. 2004 Mar 26;303(5666):2033-6.

doi: 10.1126/science.1092780.

R Sean Hill, Adria Bodell, Bernard S Chang, Lina Basel-Vanagaite, Rachel Straussberg, William B Dobyns, Bassam Qasrawi, Robin M Winter, A Micheil Innes, Thomas Voit, M Elizabeth Ross, Jacques L Michaud, Jean-Claude Déscarie, A James Barkovich, Christopher A Walsh

Affiliations

G protein-coupled receptor-dependent development of human frontal cortex

Xianhua Piao et al. Science. 2004.

Abstract

The mammalian cerebral cortex is characterized by complex patterns of anatomical and functional areas that differ markedly between species, but the molecular basis for this functional subdivision is largely unknown. Here, we show that mutations in GPR56, which encodes an orphan G protein-coupled receptor (GPCR) with a large extracellular domain, cause a human brain cortical malformation called bilateral frontoparietal polymicrogyria (BFPP). BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex.

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