Article
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.
Nature genetics - 1 Nov 2010
Endele Sabine, Rosenberger Georg, Geider Kirsten, Popp Bernt, Tamer Ceyhun, Stefanova Irina, Milh Mathieu, Kortüm Fanny, Fritsch Angela, Pientka Friederike K, Hellenbroich Yorck, Kalscheuer Vera M, Kohlhase Jürgen, Moog Ute, Rappold Gudrun, Rauch Anita, Ropers Hans-Hilger, von Spiczak Sarah, Tönnies Holger, Villeneuve Nathalie, Villard Laurent, Zabel Bernhard, Zenker Martin, Laube Bodo, Reis André, Wieczorek Dagmar, Van Maldergem Lionel, Kutsche Kerstin
Abstract excerpt
N-methyl-D-aspartate (NMDA) receptors mediate excitatory neurotransmission in the mammalian brain. Two glycine-binding NR1 subunits and two glutamate-binding NR2 subunits each form highly Ca²(+)-permeable cation channels which are blocked by extracellular Mg²(+) in a voltage-dependent manner. Either GRIN2B or GRIN2A, encoding the NMDA receptor subunits NR2B and NR2A, was found to be disrupted by chromosome...
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