Article
Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients.
The Journal of clinical investigation - 1 Apr 2007
Sadakata Tetsushi, Washida Miwa, Iwayama Yoshimi, Shoji Satoshi, Sato Yumi, Ohkura Takeshi, Katoh-Semba Ritsuko, Nakajima Mizuho, Sekine Yukiko, Tanaka Mika, Nakamura Kazuhiko, Iwata Yasuhide, Tsuchiya Kenji J, Mori Norio, Detera-Wadleigh Sevilla D, Ichikawa Hironobu, Itohara Shigeyoshi, Yoshikawa Takeo, Furuichi Teiichi
Abstract excerpt
Autism, characterized by profound impairment in social interactions and communicative skills, is the most common neurodevelopmental disorder, and its underlying molecular mechanisms remain unknown. Ca(2+)-dependent activator protein for secretion 2 (CADPS2; also known as CAPS2) mediates the exocytosis of dense-core vesicles, and the human CADPS2 is located within the autism susceptibility locus 1 on chromosome...
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