PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

Tsutomu Nakamura; Fumiko Arima-Yoshida; Fumika Sakaue; Yukiko Nasu-Nishimura; Yasuko Takeda; Ken Matsuura; Natacha Akshoomoff; Sarah N. Mattson; Paul D. Grossfeld; Toshiya Manabe; Tetsu Akiyama

doi:10.1038/ncomms10861

Nature Communications (Mar 2016)

PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking

Tsutomu Nakamura,
Fumiko Arima-Yoshida,
Fumika Sakaue,
Yukiko Nasu-Nishimura,
Yasuko Takeda,
Ken Matsuura,
Natacha Akshoomoff,
Sarah N. Mattson,
Paul D. Grossfeld,
Toshiya Manabe,
Tetsu Akiyama

Affiliations

Tsutomu Nakamura: Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo
Fumiko Arima-Yoshida: Division of Neuronal Network, Department of Basic Medical Sciences, Institute of Medical Science, The University of Tokyo
Fumika Sakaue: Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo
Yukiko Nasu-Nishimura: Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo
Yasuko Takeda: Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo
Ken Matsuura: Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo
Natacha Akshoomoff: Department of Psychiatry, School of Medicine, University of California, San Diego
Sarah N. Mattson: Department of Psychology, San Diego State University
Paul D. Grossfeld: Department of Pediatrics, School of Medicine, University of California, San Diego
Toshiya Manabe: Division of Neuronal Network, Department of Basic Medical Sciences, Institute of Medical Science, The University of Tokyo
Tetsu Akiyama: Laboratory of Molecular and Genetic Information, Institute of Molecular and Cellular Biosciences, The University of Tokyo

DOI: https://doi.org/10.1038/ncomms10861
Journal volume & issue: Vol. 7, no. 1
pp. 1 – 16

Abstract

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The molecular underpinning of autism is unclear. Here the authors show PX-RICS deficient mice exhibit autism-like social behavioural abnormalities and impaired GABAA receptor trafficking, and enhancing inhibitory synaptic transmission with a GABAAreceptor agonist ameliorate the behavioural deficits.

Published in Nature Communications

ISSN: 2041-1723 (Online)
Publisher: Nature Portfolio
Country of publisher: United Kingdom
LCC subjects: Science
Website: https://www.nature.com/ncomms/

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