Cited by 218Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder ResearchNeuroscience and Neuropharmacology Research

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 access

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·2007·Journal of Clinical Investigation

DOI 10.1172/jci29031PMC PMC1821065

Open this paper in CoChat — free account Open PDF

Abstract

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.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1172/jci29031

Cites

63 of 63 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

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
Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders
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
Washington DC - USA
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
The genetics of autism
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207

Show all 65 references

Research works printed but not linked: 1

Kawase, 1994, Int. J. Dev. Biol., 38, 385

Sorted by citations

A draft sequence of the Neandertal genome
Green, R. E., Krause, J., Briggs, A. W., Maricic, T., Stenzel, U., Kircher, M., Patterson, N., Li, H., Zhai, W., Fritz, M. H.-Y., et al. (2010) · Science · doi:10.1126/science.1188021 · Cited by 4,318
Identification of common genetic risk variants for autism spectrum disorder
Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0344-8 · Cited by 2,421
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462
Function of alternative splicing
Stamm, S., Ben‐Ari, S., Rafalska, I., Tang, Y., Zhang, Z., Toiber, D., Thanaraj, T. A., & Soreq, H. (2004) · Gene · doi:10.1016/j.gene.2004.10.022 · Cited by 1,398
Control of mental activities by internal models in the cerebellum
Ito, M. (2008) · Nature Reviews Neuroscience · doi:10.1038/nrn2332 · Cited by 1,356
Function of alternative splicing
Kelemen, O., Convertini, P., Zhang, Z., Wen, Y., Shen, M., Falaleeva, M., & Stamm, S. (2013) · Gene · doi:10.1016/j.gene.2012.07.083 · Cited by 743
A synaptic trek to autism
Bourgeron, T. (2009) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2009.06.003 · Cited by 637
Common circuit defect of excitatory-inhibitory balance in mouse models of autism
Gogolla, N., LeBlanc, J. J., Quast, K. B., Südhof, T. C., Fagiolini, M., & Hensch, T. K. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9023-x · Cited by 610
GABA system dysfunction in autism and related disorders: From synapse to symptoms
Coghlan, S., Horder, J., Inkster, B., Méndez, M. A., Murphy, D., & Nutt, D. (2012) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2012.07.005 · Cited by 459
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes
Bucan, M., Abrahams, B. S., Wang, K., Glessner, J. T., Herman, E. I., Sonnenblick, L. I., Alvarez Retuerto, A. I., Imielinski, M., Hadley, D., Bradfield, J. P., et al. (2009) · PLoS Genetics · doi:10.1371/journal.pgen.1000536 · Cited by 424
UNC-31 (CAPS) is required for dense-core vesicle but not synaptic vesicle exocytosis in Caenorhabditis elegans
Speese, S., Petrie, M., Schuske, K., Ailion, M., Ann, K., Iwasaki, K., Jorgensen, E. M., & Martin, T. F. J. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.1466-07.2007 · Cited by 333
Autism Spectrum Disorder and the Cerebellum
Becker, E. B. E., & Stoodley, C. J. (2013) · International review of neurobiology · doi:10.1016/b978-0-12-418700-9.00001-0 · Cited by 292
Voxelwise genome-wide association study (vGWAS)
Stein, J. L., Hua, X., Lee, S., Ho, A. J., Leow, A., Toga, A. W., Saykin, A. J., Shen, L., Foroud, T., Pankratz, N., et al. (2010) · NeuroImage · doi:10.1016/j.neuroimage.2010.02.032 · Cited by 276
Reduction in parvalbumin expression not loss of the parvalbumin-expressing GABA interneuron subpopulation in genetic parvalbumin and shank mouse models of autism
Filice, F., Vörckel, K. J., Sungur, A. Ö., Wöhr, M., & Schwaller, B. (2016) · Molecular Brain · doi:10.1186/s13041-016-0192-8 · Cited by 240
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy
Millan, M. J. (2013) · Neuropharmacology · doi:10.1016/j.neuropharm.2012.11.015 · Cited by 229
Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses
Won, H., Mah, W., & Kim, E. (2013) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2013.00019 · Cited by 217
Altered white matter fractional anisotropy and social impairment in children with autism spectrum disorder
Noriuchi, M., Kikuchi, Y., Yoshiura, T., Kira, R., Shigeto, H., Hara, T., Tobimatsu, S., & Kamio, Y. (2010) · Brain Research · doi:10.1016/j.brainres.2010.09.051 · Cited by 182
Translational Mouse Models of Autism: Advancing Toward Pharmacological Therapeutics
Kazdoba, T. M., Leach, P. T., Yang, M., Silverman, J. L., Solomon, M., & Crawley, J. N. (2015) · Current topics in behavioral neurosciences · doi:10.1007/7854_2015_5003 · Cited by 185
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders
Rosenfeld, J. A., Ballif, B. C., Torchia, B. S., Sahoo, T., Ravnan, J. B., Schultz, R., Lamb, A., Bejjani, B. A., & Shaffer, L. G. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f0c5f3 · Cited by 169
Impaired Cerebellar Development and Function in Mice Lacking CAPS2, a Protein Involved in Neurotrophin Release
Sadakata, T., Kakegawa, W., Mizoguchi, A., Washida, M., Katoh‐Semba, R., Shutoh, F., Okamoto, T., Nakashima, H., Kimura, K., Tanaka, M., et al. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.2279-06.2007 · Cited by 157
Self-citation
Uncovering Molecular Biomarkers That Correlate Cognitive Decline with the Changes of Hippocampus' Gene Expression Profiles in Alzheimer's Disease
Ravetti, M. G., Rosso, O. A., Berretta, R. E., & Moscato, P. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010153 · Cited by 144
Identification of Arx transcriptional targets in the developing basal forebrain
Fulp, C. T., Cho, G., Marsh, E. D., Nasrallah, I. M., Labosky, P. A., & Golden, J. A. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn271 · Cited by 138
Chd7 is indispensable for mammalian brain development through activation of a neuronal differentiation programme
Feng, W., Kawauchi, D., Körkel-Qu, H., Deng, H., Serger, E., Sieber, L., Lieberman, J. A., Jimeno-González, S., Lambo, S., Hanna, B. S., et al. (2017) · Nature Communications · doi:10.1038/ncomms14758 · Cited by 136
Relationships between Gene Expression and Brain Wiring in the Adult Rodent Brain
French, L., & Pavlidis, P. (2011) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1001049 · Cited by 129
Slitrk1-deficient mice display elevated anxiety-like behavior and noradrenergic abnormalities
Katayama, K., Yamada, K., Ornthanalai, V. G., Inoue, T., Ota, M., Murphy, N. P., & Aruga, J. (2010) · Molecular Psychiatry · doi:10.1038/mp.2008.97 · Cited by 127
Candidate Hippocampal Biomarkers of Susceptibility and Resilience to Stress in a Rat Model of Depression
Henningsen, K., Palmfeldt, J., Christiansen, S. L., Baiges, I., Bak, S. Y., Jensen, O. N., Gregersen, N., & Wiborg, O. (2012) · Molecular & Cellular Proteomics · doi:10.1074/mcp.m111.016428 · Cited by 130
Channelopathy pathogenesis in autism spectrum disorders
Schmunk, G., & Gargus, J. J. (2013) · Frontiers in Genetics · doi:10.3389/fgene.2013.00222 · Cited by 126
Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment
Ito, S., Ogiwara, I., Yamada, K., Miyamoto, H., Hensch, T. K., Ōsawa, M., & Yamakawa, K. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.08.003 · Cited by 113
Modulation of dendritic spine development and plasticity by BDNF and vesicular trafficking: fundamental roles in neurodevelopmental disorders associated with mental retardation and autism
Chapleau, C. A., Larimore, J. L., Theibert, A. B., & Pozzo‐Miller, L. D. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9027-6 · Cited by 112
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles
Castermans, D., Volders, K., Crepel, A., Backx, L., De Vos, R., Freson, K., Meulemans, S., Vermeesch, J. R., Schrander-Stumpel, C. T. R. M., De Rijk, P., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq013 · Cited by 100
Prenatal stress and inhibitory neuron systems: implications for neuropsychiatric disorders
Fine, R., Zhang, J., & Stevens, H. E. (2014) · Molecular Psychiatry · doi:10.1038/mp.2014.35 · Cited by 96
Genomic and genetic aspects of autism spectrum disorder
Liu, X., & Takumi, T. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.108 · Cited by 95
The role of neurotrophic factors in autism
Nickl‐Jockschat, T., & Michel, T. M. (2010) · Molecular Psychiatry · doi:10.1038/mp.2010.103 · Cited by 96
Common risk variants identified in autism spectrum disorder
Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., et al. (2017) · doi:10.1101/224774 · Cited by 89
Basal ganglia and autism – a translational perspective
Subramanian, K., Brandenburg, C., Orsati, F. T., Soghomonian, J., Hussman, J. P., & Blatt, G. J. (2017) · Autism Research · doi:10.1002/aur.1837 · Cited by 98
Calcium-dependent activator protein for secretion 2 (CAPS2) promotes BDNF secretion and is critical for the development of GABAergic interneuron network
Shinoda, Y., Sadakata, T., Nakao, K., Katoh‐Semba, R., Kinameri, E., Furuya, A., Yanagawa, Y., Hirase, H., & Furuichi, T. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1012220108 · Cited by 89
Self-citation
Mechanisms Controlling the Expression and Secretion of BDNF
Arévalo, J. C., & Deogracias, R. (2023) · Biomolecules · doi:10.3390/biom13050789 · Cited by 89
Autism as a disorder of deficiency of brain-derived neurotrophic factor and altered metabolism of polyunsaturated fatty acids
Das, U. N. (2013) · Nutrition · doi:10.1016/j.nut.2013.01.012 · Cited by 82
The Evolution of Human Brain Development
Neubauer, S., & Hublin, J. (2011) · Evolutionary Biology · doi:10.1007/s11692-011-9156-1 · Cited by 77
Gene–environment interaction during early development in the heterozygous reeler mouse: Clues for modelling of major neurobehavioral syndromes
Laviola, G., Ognibene, E., Romano, E., Adriani, W., & Keller, F. (2008) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2008.09.006 · Cited by 76
Cerebellar development transcriptome database (CDT-DB): Profiling of spatio-temporal gene expression during the postnatal development of mouse cerebellum
Sato, A., Sekine, Y., Saruta, C., Nishibe, H., Morita, N., Sato, Y., Sadakata, T., Shinoda, Y., Kojima, T., & Furuichi, T. (2008) · Neural Networks · doi:10.1016/j.neunet.2008.05.004 · Cited by 77
Self-citation
Reduced axonal localization of a Caps2 splice variant impairs axonal release of BDNF and causes autistic-like behavior in mice
Sadakata, T., Shinoda, Y., Oka, M., Sekine, Y., Sato, Y., Saruta, C., Miwa, H., Tanaka, M., Itohara, S., & Furuichi, T. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1210055109 · Cited by 75
Self-citation
Tau Phosphorylation and Cleavage in Ethanol-Induced Neurodegeneration in the Developing Mouse Brain
Saito, M., Chakraborty, G., Mao, R.-F., Paik, S.-M., Vadász, C., & Saito, M. (2010) · Neurochemical Research · doi:10.1007/s11064-009-0116-4 · Cited by 72
The Mitochondrial Aspartate/Glutamate Carrier AGC1 and Calcium Homeostasis: Physiological Links and Abnormalities in Autism
Napolioni, V., Persico, A. M., Porcelli, V., & Palmieri, L. (2011) · Molecular Neurobiology · doi:10.1007/s12035-011-8192-2 · Cited by 70
Synaptic Signaling and Aberrant RNA Splicing in Autism Spectrum Disorders
Smith, R. M., & Sadée, W. (2011) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2011.00001 · Cited by 70
Targeting BDNF signaling by natural products: Novel synaptic repair therapeutics for neurodegeneration and behavior disorders
Bawari, S., Tewari, D., Argüelles, S., Sah, A. N., Nabavi, S. F., Xu, S., Vacca, R. A., Nabavi, S. M., & Shirooie, S. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2019.104458 · Cited by 69
Developmentally Regulated Ca2+-Dependent Activator Protein for Secretion 2 (CAPS2) is Involved in BDNF Secretion and is Associated with Autism Susceptibility
Sadakata, T., & Furuichi, T. (2009) · The Cerebellum · doi:10.1007/s12311-009-0097-5 · Cited by 63
Self-citation
Digital gene atlas of neonate common marmoset brain
Shimogori, T., Abe, A., Go, Y., Hashikawa, T., Kishi, N., Kikuchi, S. S., Kita, Y., Niimi, K., Nishibe, H., Okuno, M., et al. (2017) · Neuroscience Research · doi:10.1016/j.neures.2017.10.009 · Cited by 62
Self-citation
Dysfunctional gene splicing as a potential contributor to neuropsychiatric disorders
Glatt, S. J., Cohen, O. S., Faraone, S. V., & Tsuang, M. T. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31181 · Cited by 60
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals
Piton, A., Jouan, L., Rochefort, D. L., Dobrzeniecka, S., Lachapelle, K., Dion, P. A., Gauthier, J., & Rouleau, G. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.243 · Cited by 65
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
Bonora, E., Graziano, C., Minopoli, F., Bacchelli, E., Magini, P., Diquigiovanni, C., Lomartire, S., Bianco, F., Vargiolu, M., Parchi, P., et al. (2014) · EMBO Molecular Medicine · doi:10.1002/emmm.201303235 · Cited by 54
UNC-31/CAPS docks and primes dense core vesicles in C. elegans neurons
Lin, X., Ming, M., Chen, M., Niu, W., Zhang, Y., Liu, B., Jiu, Y., Yu, J.-W., Xu, T., & Wu, Z. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.05.148 · Cited by 44
A functional polymorphism of the brain derived neurotrophic factor gene and cortical anatomy in autism spectrum disorder
Raznahan, A., Toro, R., Proitsi, P., Powell, J. F., Paus, T., Bolton, P., & Murphy, D. (2009) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-009-9012-0 · Cited by 46
Decreased parvalbumin mRNA levels in cerebellar Purkinje cells in autism
Soghomonian, J., Zhang, K., Reprakash, S., & Blatt, G. J. (2017) · Autism Research · doi:10.1002/aur.1835 · Cited by 43
Arc Regulates Transcription of Genes for Plasticity, Excitability and Alzheimer’s Disease
Leung, H.-W., Foo, G., & VanDongen, A. M. J. (2022) · Biomedicines · doi:10.3390/biomedicines10081946 · Cited by 41
Genome-wide linkage in Utah autism pedigrees
Allen‐Brady, K., Robison, R. J., Cannon, D. S., Varvil, T., Villalobos, M., Pingree, C., Leppert, M., Miller, J. N., McMahon, W. M., & Coon, H. H. (2009) · Molecular Psychiatry · doi:10.1038/mp.2009.42 · Cited by 41
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing
Aristidou, C., Koufaris, C., Theodosiou, A., Bak, M., Mehrjouy, M. M., Behjati, F., Tanteles, G. A., Anastasiadou, V., Tommerup, N., & Sismani, C. (2017) · PLoS ONE · doi:10.1371/journal.pone.0169935 · Cited by 41
MicroRNA-210 downregulates TET2 and contributes to inflammatory response in neonatal hypoxic-ischemic brain injury
Ma, Q., Dasgupta, C., Shen, G., Li, Y., & Zhang, L. (2021) · Journal of Neuroinflammation · doi:10.1186/s12974-020-02068-w · Cited by 42
Involvement of ceramide in ethanol‐induced apoptotic neurodegeneration in the neonatal mouse brain
Saito, M., Chakraborty, G., Hegde, M., Ohsie, J., Paik, S., Vadász, C., & Saito, M. (2010) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2010.06913.x · Cited by 40
CAPS1 RNA Editing Promotes Dense Core Vesicle Exocytosis
Miyake, K., Ohta, T., Nakayama, H., Doe, N., Terao, Y., Oiki, E., Nagatomo, I., Yamashita, Y., Abe, T., Nishikura, K., et al. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.10.073 · Cited by 39
Glutamatergic axon-derived BDNF controls GABAergic synaptic differentiation in the cerebellum
Chen, A. I., Zang, K., Masliah, E., & Reichardt, L. F. (2016) · Scientific Reports · doi:10.1038/srep20201 · Cited by 37
Genes and sex hormones interaction in neurodevelopmental disorders
Romano, E., Cosentino, L., Laviola, G., & Filippis, B. D. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.02.019 · Cited by 42
Implication of Hippocampal Neurogenesis in Autism Spectrum Disorder: Pathogenesis and Therapeutic Implications
Liu, C., Liu, J., Gong, H., Liu, T., Li, X., & Fan, X. (2022) · Current Neuropharmacology · doi:10.2174/1570159x21666221220155455 · Cited by 35
NECAB1 and NECAB2 are Prevalent Calcium-Binding Proteins of CB1/CCK-Positive GABAergic Interneurons
Miczán, V., Kelemen, K., Glavinics, J. R., László, Z. I., Barti, B., Kenesei, K., Kisfali, M., & Katona, I. (2020) · Cerebral Cortex · doi:10.1093/cercor/bhaa326 · Cited by 30
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding
Sbacchi, S., Acquadro, F., Calo, I., Calı̀, F., & Romano, V. (2010) · Current Genomics · doi:10.2174/138920210790886880 · Cited by 33
Annual Research Review: Transgenic mouse models of childhood‐onset psychiatric disorders
Robertson, H. R., & Feng, G. (2011) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2011.02380.x · Cited by 33
The presynaptic machinery at the synapse of C. elegans
Calahorro, F., & Izquierdo, P. G. (2018) · Invertebrate Neuroscience · doi:10.1007/s10158-018-0207-5 · Cited by 40
Consequences of prenatal exposure to valproic acid in the socially monogamous prairie voles
Sailer, L. L., Duclot, F., Wang, Z., & Kabbaj, M. (2019) · Scientific Reports · doi:10.1038/s41598-019-39014-7 · Cited by 31
A Statistical Framework for Mapping Risk Genes from De Novo Mutations in Whole-Genome-Sequencing Studies
Liu, Y., Liang, Y., Çiçek, A. E., Li, Z., Li, J., Muhle, R., Krenzer, M., Mei, Y., Wang, Y., Knoblauch, N., et al. (2018) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2018.03.023 · Cited by 34
Microglia homeostasis mediated by epigenetic ARID1A regulates neural progenitor cells response and leads to autism-like behaviors
Su, L., Zhang, M., Ji, F., Zhao, J., Wang, Y., Wang, W., Zhang, S., Ma, H., Wang, Y., & Jiao, J. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01703-7 · Cited by 32
The Conserved VPS-50 Protein Functions in Dense-Core Vesicle Maturation and Acidification and Controls Animal Behavior
Paquin, N., Murata, Y., Froehlich, A. C., Omura, D. T., Ailion, M., Pender, C. L., Constantine‐Paton, M., & Horvitz, H. R. (2016) · Current Biology · doi:10.1016/j.cub.2016.01.049 · Cited by 29
CAPS-1 promotes fusion competence of stationary dense-core vesicles in presynaptic terminals of mammalian neurons
Farina, M., van de Bospoort, R., He, E., Persoon, C. M., van Weering, J. R., Broeke, J. H., Verhage, M., & Toonen, R. F. (2015) · eLife · doi:10.7554/elife.05438 · Cited by 61
Genetic Evidence for Possible Involvement of the Calcium Channel Gene CACNA1A in Autism Pathogenesis in Chinese Han Population
Li, J., You, Y., Yue, W., Jia, M., Yu, H., Lu, T., Wu, Z., Ruan, Y., Wang, L., & Zhang, D. (2015) · PLoS ONE · doi:10.1371/journal.pone.0142887 · Cited by 30
Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition
Espeso‐Gil, S., Holik, A. Z., Bonnin, S., Jhanwar, S., Chandrasekaran, S., Piqué-Regi, R., Albaigès, J., Maher, M., Permanyer, J., Irimia, M., et al. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.664912 · Cited by 28
Characterization of the Deleted in Autism 1 Protein Family: Implications for Studying Cognitive Disorders
Aziz, A., Harrop, S. P., & Bishop, N. E. (2011) · PLoS ONE · doi:10.1371/journal.pone.0014547 · Cited by 31
Alternative splicing variations in mouse CAPS2: differential expression and functional properties of splicing variants
Sadakata, T., Washida, M., & Furuichi, T. (2007) · BMC Neuroscience · doi:10.1186/1471-2202-8-25 · Cited by 30
Self-citation
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV
Okamoto, N., Hatsukawa, Y., Shimojima, K. Y., & Yamamoto, T. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34028 · Cited by 30
Comprehensive Behavioral Analysis of Activating Transcription Factor 5-Deficient Mice
Umemura, M., Ogura, T., Matsuzaki, A., Nakano, H., Takao, K., Miyakawa, T., & Takahashi, Y. K. (2017) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2017.00125 · Cited by 29
Molecular characterization of the song control nucleus HVC in Bengalese finch brain
Kato, M., & Okanoya, K. (2010) · Brain Research · doi:10.1016/j.brainres.2010.09.014 · Cited by 28
The Ca2+-dependent Activator Protein for Secretion CAPS: Do I Dock or do I Prime?
Stevens, D. R., & Rettig, J. (2009) · Molecular Neurobiology · doi:10.1007/s12035-009-8052-5 · Cited by 28
Are Sema5a mutant mice a good model of autism? A behavioral analysis of sensory systems, emotionality and cognition
Gunn, R. K., Huentelman, M. J., & Brown, R. E. (2011) · Behavioural Brain Research · doi:10.1016/j.bbr.2011.07.008 · Cited by 31
CAPS1 Deficiency Perturbs Dense-Core Vesicle Trafficking and Golgi Structure and Reduces Presynaptic Release Probability in the Mouse Brain
Sadakata, T., Kakegawa, W., Shinoda, Y., Hosono, M., Katoh‐Semba, R., Sekine, Y., Sato, Y., Tanaka, M., Iwasato, T., Itohara, S., et al. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.2777-13.2013 · Cited by 23
Self-citation
Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes
Alonso-González, A., Calaza, M., Rodriguez‐Fontenla, C., & Carracedo, Á. (2019) · BMC Medical Genomics · doi:10.1186/s12920-019-0593-5 · Cited by 26
Neurotrophic Factors in Mouse Models of Autism Spectrum Disorder: Focus on BDNF and IGF-1
Reim, D., & Schmeißer, M. J. (2017) · Advances in anatomy, embryology and cell biology · doi:10.1007/978-3-319-52498-6_7 · Cited by 27
Single-Cell RNA Analysis of Type I Spiral Ganglion Neurons Reveals a Lmx1a Population in the Cochlea
Grandi, F. C., Tomasi, L. D., & Mustapha, M. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.00083 · Cited by 25
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism
Castermans, D., Thienpont, B., Volders, K., Crepel, A., Vermeesch, J. R., Schrander-Stumpel, C. T. R. M., de Ven, W. J. M. V., Steyaert, J. G., Creemers, J. W. M., & Devriendt, K. (2008) · European Journal of Human Genetics · doi:10.1038/ejhg.2008.71 · Cited by 25
Ca2+-dependent activator protein for secretion 2 and autistic-like phenotypes
Sadakata, T., & Furuichi, T. (2010) · Neuroscience Research · doi:10.1016/j.neures.2010.03.006 · Cited by 23
Self-citation
Animal Models of Autism Spectrum Disorder (ASD): A Synaptic-Level Approach to Autistic-Like Behavior in Mice
Shinoda, Y., Sadakata, T., & Furuichi, T. (2013) · EXPERIMENTAL ANIMALS · doi:10.1538/expanim.62.71 · Cited by 25
Self-citation
CADPS2 gene expression is oppositely regulated by LRRK2 and alpha-synuclein
Obergasteiger, J., Überbacher, C., Pramstaller, P. P., Hicks, A. A., Corti, C., & Volta, M. (2017) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2017.06.134 · Cited by 23
Bio-collections in autism research
Reilly, J., Gallagher, L., Chen, J. L., Leader, G., & Shen, S. (2017) · Molecular Autism · doi:10.1186/s13229-017-0154-8 · Cited by 23
How could N-Methyl-D-Aspartate Receptor Antagonists Lead to Excitation Instead of Inhibition?
Su, T., Lu, Y., Geng, Y., Lü, W., & Chen, Y. (2018) · Brain Science Advances · doi:10.26599/bsa.2018.2018.9050009 · Cited by 26
Lack of stress responses to long-term effects of corticosterone in Caps2 knockout mice
Mishima, Y., Shinoda, Y., Sadakata, T., Kojima, M., Wakana, S., & Furuichi, T. (2015) · Scientific Reports · doi:10.1038/srep08932 · Cited by 24
Self-citation
Autistic‐like behavioral phenotypes in a mouse model with copy number variation of the CAPS2/CADPS2 gene
Sadakata, T., Shinoda, Y., Oka, M., Sekine, Y., & Furuichi, T. (2012) · FEBS Letters · doi:10.1016/j.febslet.2012.10.047 · Cited by 22
Self-citation
Journey of brain-derived neurotrophic factor: from intracellular trafficking to secretion
Kojima, M., Ishii, C., Sano, Y., Mizui, T., & Furuichi, T. (2020) · Cell and Tissue Research · doi:10.1007/s00441-020-03274-x · Cited by 22
Self-citation
Molecular Dysregulation in Autism Spectrum Disorder
Gill, P. S., Clothier, J. L., Veerapandiyan, A., Dweep, H., Porter-Gill, P. A., & Schaefer, G. B. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11090848 · Cited by 22
Prenatal valproate treatment produces autistic-like behavior and increases metabotropic glutamate receptor 1A-immunoreactivity in the hippocampus of juvenile rats
Peralta, F. A., Fuentealba, C., Fiedler, J. L., & Aliaga, E. (2016) · Molecular Medicine Reports · doi:10.3892/mmr.2016.5529 · Cited by 21
C-type natriuretic peptide functions as an innate neuroprotectant in neonatal hypoxic-ischemic brain injury in mouse via natriuretic peptide receptor 2
Ma, Q., & Zhang, L. (2018) · Experimental Neurology · doi:10.1016/j.expneurol.2018.02.016 · Cited by 21
Triggers for Autism: Genetic and Environmental Factors
Matsuzaki, H., Iwata, K., Manabe, T., & Mori, N. (2012) · Journal of Central Nervous System Disease · doi:10.4137/jcnsd.s9058 · Cited by 23
Self-citation
The brain-specific RasGEF very-KIND is required for normal dendritic growth in cerebellar granule cells and proper motor coordination
Hayashi, K., Furuya, A., Sakamaki, Y., Akagi, T., Shinoda, Y., Sadakata, T., Hashikawa, T., Shimizu, K., Minami, H., Sano, Y., et al. (2017) · PLoS ONE · doi:10.1371/journal.pone.0173175 · Cited by 20
Self-citation

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: Sadakata, Tetsushi
Shoji, Satoshi
Sato, Yumi
Nakamura, Kazuhiko
Tsuchiya, Kenji J.
Itohara, Shigeyoshi
Yoshikawa, Takeo
Furuichi, Teiichi
Venue: Journal of Clinical Investigation
Publisher: American Society for Clinical Investigation
Published: 2007-04-02
Volume: 117
Issue: 4
Pages: 931-943
ISSN: 0021-9738 (ISSN-L)
DOI: 10.1172/jci29031
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

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Autistic-like phenotypes in Cadps2-knockout mice and aberrant CADPS2 splicing in autistic patients

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks