179 research outputs found
D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans
The D-aspartate oxidase (DDO) gene encodes the enzyme responsible for the catabolism of D-aspartate, an atypical amino acid enriched in the mammalian brain and acting as an endogenous NMDA receptor agonist. Considering the key role of NMDA receptors in neurodevelopmental disorders, recent findings suggest a link between D-aspartate dysmetabolism and schizophrenia. To clarify the role of D-aspartate on brain development and functioning, we used a mouse model with constitutive Ddo overexpression and D-aspartate depletion. In these mice, we found reduced number of BrdU-positive dorsal pallium neurons during corticogenesis, and decreased cortical and striatal gray matter volume at adulthood. Brain abnormalities were associated with social recognition memory deficit at juvenile phase, suggesting that early D-aspartate occurrence influences neurodevelopmental related phenotypes. We corroborated this hypothesis by reporting the first clinical case of a young patient with severe intellectual disability, thought disorders and autism spectrum disorder symptomatology, harboring a duplication of a chromosome 6 region, including the entire DDO gene
DETERMINATION OF THE NEUTRAL TO CHARGED CURRENT CROSS-SECTION RATIO FOR NEUTRINO INTERACTIONS ON PROTONS
Local and global performance of double-gap resistive plate chambers operated in avalanche mode
Two large double-gap resistive plate chambers, with 2 and 3 mm gap widths, were tested to study their response uniformity when operated in avalanche mode. The effects of mechanical tolerances and the presence of the spacers is thoroughly examined. Results on efficiency and time resolution are presented. We find that average performance and response uniformity over the whole chamber surface are fully adequate to the requirements of future collider experiments. (C) 1999 Elsevier Science B.V, All rights reserved
ANTINEUTRINO-NUCLEON TOTAL CROSS-SECTION AND RATIO OF ANTINEUTRINO CROSS-SECTION ON NEUTRONS AND PROTONS
THE DOUBLE ASSOCIATED PRODUCTION OF CHARMED PARTICLES BY THE INTERACTION OF 350 GEV/C PI-MESONS WITH EMULSION NUCLEI
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