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Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients
Open accessAbstract
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 7q. Here we show that Cadps2-knockout mice not only have impaired brain-derived neurotrophic factor release but also show autistic-like cellular and behavioral phenotypes. Moreover, we found an aberrant alternatively spliced CADPS2 mRNA that lacks exon 3 in some autistic patients. Exon 3 was shown to encode the dynactin 1-binding domain and affect axonal CADPS2 protein distribution. Our results suggest that a disturbance in CADPS2-mediated neurotrophin release contributes to autism susceptibility.
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“As already reported in several studies [47, 72–74] canonical ASD mouse models were shown to display a reduction in the number of PV-immunoreactive cells in various brain regions.”
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Metadata
- Authors
- Sadakata, T., Washida, M., Iwayama, Y., Shoji, S., Sato, Y., Ohkura, T., Katoh-Semba, R., Nakajima, M., Sekine, Y., Tanaka, M., Nakamura, K., Iwata, Y., Tsuchiya, K. J., Mori, N., Detera-Wadleigh, S. D., Ichikawa, H., Itohara, S., Yoshikawa, T., & Furuichi, T.
- Affiliations
- RIKEN (JP)
- RIKEN Center for Brain Science (JP)
- Hamamatsu University (JP)
- Corresponding author
- Furuichi, Teiichi
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2007-04-02
- Volume
- 117
- Issue
- 4
- Pages
- 931-943
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC1821065
- OpenAlex
- W2081229769
- Cited by
- 218
- References
- 65
- Citations by year
- 2026: 6 · 2025: 10 · 2024: 10 · 2023: 5 · 2022: 12 · 2021: 21 · 2020: 5 · 2019: 10 · 2018: 10 · 2017: 18 · 2016: 11 · 2015: 5 · 2014: 11 · 2013: 8 · 2012: 13
- FWCI
- 8.42
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Japan Society for the Promotion of Science (17700322)
- RIKEN
- RIKEN Brain Science Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- autism spectrum disorder, alternative splicing, exon 3 deletion, neurodevelopmental disorders
- MeSH terms
- Animals, Autistic Disorder, Calcium-Binding Proteins, Chromosome Aberrations, Cognition Disorders, Disease Models, Animal, Female, Humans, Maternal Behavior, Purkinje Cells, Cell Death, Sequence Deletion, Alternative Splicing, Mice, Knockout, Genetic Predisposition to Disease, Vesicular Transport Proteins, Mice
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