Article
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome.
Human molecular genetics - 1 Jan 2007
Raux Grégory, Bumsel Emilie, Hecketsweiler Bernadette, van Amelsvoort Therese, Zinkstok Janneke, Manouvrier-Hanu Sylvie, Fantini Carole, Brévière Georges-Marie M, Di Rosa Gabriella, Pustorino Giuseppina, Vogels Annick, Swillen Ann, Legallic Solenn, Bou Jacqueline, Opolczynski Gaelle, Drouin-Garraud Valérie, Lemarchand Marie, Philip Nicole, Gérard-Desplanches Aude, Carlier Michèle, Philippe Anne, Nolen Marie Christine, Heron Delphine, Sarda Pierre, Lacombe Didier, Coizet Cyril, Alembik Yves, Layet Valérie, Afenjar Alexandra, Hannequin Didier, Demily Caroline, Petit Michel, Thibaut Florence, Frebourg Thierry, Campion Dominique
Abstract excerpt
Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk for psychosis and mental retardation. Recently, it has been shown in a hyperprolinemic mouse model that an interaction between two genes localized in the hemideleted region, proline dehydrogenase (PRODH) and catechol-o-methyl-transferase (COMT), could be involved in this phenotype....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.