Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.

doi:10.1371/journal.pone.0011495

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Article

Identification of pathway-biased and deleterious melatonin receptor mutants in autism spectrum disorders and in the general population.

PloS one - 15 Jul 2010

Chaste Pauline, Clement Nathalie, Mercati Oriane, Guillaume Jean-Luc, Delorme Richard, Botros Hany Goubran, Pagan Cécile, Périvier Samuel, Scheid Isabelle, Nygren Gudrun, Anckarsäter Henrik, Rastam Maria, Ståhlberg Ola, Gillberg Carina, Serrano Emilie, Lemière Nathalie, Launay Jean Marie, Mouren-Simeoni Marie Christine, Leboyer Marion, Gillberg Christopher, Jockers Ralf, Bourgeron Thomas

Abstract excerpt

Melatonin is a powerful antioxidant and a synchronizer of many physiological processes. Alteration of the melatonin pathway has been reported in circadian disorders, diabetes and autism spectrum disorders (ASD). However, very little is known about the genetic variability of melatonin receptors in humans. Here, we sequenced the melatonin receptor MTNR1A and MTNR1B, genes coding for MT1 and MT2 receptors,...

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PMID: 20657642
DOI: 10.1371/journal.pone.0011495
PMCID: PMC2904695

Genes

GPR50

Variants

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