The DOI matches its Crossref record; 63 of the 65 references it cites were found in a registry or an index.
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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Diagnostic and Statistical Manual of Mental Disorders
Williams, J. B. W., & First, M. B. (2013) · Oxford University Press eBooks · doi:10.1093/acrefore/9780199975839.013.104 · Cited by 109,845
Diagnostic and Statistical Manual of Mental Disorders (DSM-IV)
Hu, R. J. (2003) · Elsevier eBooks · doi:10.1016/b0-12-226870-9/01070-4 · Cited by 9,168
Lord, C., Rutter, M., & Le Couteur, A. (1994) · Journal of Autism and Developmental Disorders · doi:10.1007/bf02172145 · Cited by 9,065
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Gralton, B. (2008) · Art monthly Australia · Cited by 3,001
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
Study, P. A. R. I. S., Jamain, S., Quach, H., Betancur, C., Råstam, M., Colineaux, C., Gillberg, I. C., Soderstrom, H., Giros, B., Leboyer, M., et al. (2003) · Nature Genetics · doi:10.1038/ng1136 · Cited by 1,851
pEF-BOS, a powerful mammalian expression vector
Mizushima, S., & Nagata, S. (1990) · Nucleic Acids Research · doi:10.1093/nar/18.17.5322 · Cited by 1,594
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
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- Kawase, 1994, Int. J. Dev. Biol., 38, 385
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Items 201–218 of 218
Sorting out Parkinson’s disease: one cell at a time
Lin, H.-P., & Narendra, D. P. (2022) · Brain · doi:10.1093/brain/awac071
Nürnberger, J. I. (2019) · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature · doi:10.3410/f.735152734.793563005 · Cited by 1
Moriano, J., Boeckx, C. A., & Kuhlwilm, M. (2025) · Oxford University Press eBooks · doi:10.1093/oxfordhb/9780192886491.013.12 · Cited by 1
The DID of CAPS-1 anchors plasma membrane to promote vesicle exocytosis
Zhang, L., Dai, Y., Sun, T., Wang, W., & Wei, Z. (2025) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2025.110902
Durante, G. L., Tyler, A. L., Scott, R. C., Hernan, A. E., & Mahoney, J. M. (2025) · Epilepsia · doi:10.1111/epi.70035
Petkova-Tuffy, A., Gödecke, N., Viotti, J., Körte, M., & Dresbach, T. (2021) · Figshare · doi:10.6084/m9.figshare.16689659
Petkova-Tuffy, A., Gödecke, N., Viotti, J., Körte, M., & Dresbach, T. (2021) · Figshare · doi:10.6084/m9.figshare.16689653
Petkova-Tuffy, A., Gödecke, N., Viotti, J., Körte, M., & Dresbach, T. (2021) · Figshare · doi:10.6084/m9.figshare.16689647
Additional file 1 of Maternal immunoglobulin G affects brain development of mouse offspring
Sadakata, M., Fujii, K., Kaneko, R., Hosoya, E., Sugimoto, H., Kawabata‐Iwakawa, R., Kasamatsu, T., Hongo, S., Koshidaka, Y., Takase, A., et al. (2024) · Figshare · doi:10.6084/m9.figshare.25744315
Self-citationPetkova-Tuffy, A., Gödecke, N., Viotti, J., Körte, M., & Dresbach, T. (2021) · Figshare · doi:10.6084/m9.figshare.16689662
Petkova-Tuffy, A., Gödecke, N., Viotti, J., Körte, M., & Dresbach, T. (2021) · Figshare · doi:10.6084/m9.figshare.16689650
Petkova-Tuffy, A., Gödecke, N., Viotti, J., Körte, M., & Dresbach, T. (2021) · Figshare · doi:10.6084/m9.figshare.16689656
Nagano, W., Takahashi, J., Yamauchi, T., Yamada, D., Sano, Y., Furuichi, T., & Saitoh, A. (2026) · European Journal of Neuroscience · doi:10.1111/ejn.70530
Self-citationNovel Potential Risk Loci for Migraine in the Portuguese Population
Marco, R. C. D., Pucci, K., Santos, M., Gil‐Gouveia, R., Cavadas, B., Sousa, A., Alves‐Ferreira, M., Azevedo, L., Lemos, C., & Dias, A. (2026) · International Journal of Molecular Sciences · doi:10.3390/ijms27125165 · Cited by 1
Ito, Y., Akiyama, M., Maejima, R., Nakayama, K. I., Furuichi, T., & Motoyama, J. (2026) · Behavioural Brain Research · doi:10.1016/j.bbr.2026.116486
Self-citationWada, M., Shinoda, Y., & Uchino, S. (2026) · Oxford Open Neuroscience · doi:10.1093/oons/kvag014
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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