The DOI matches its Crossref record; 55 of the 55 references it cites were found in a registry or an index.
Protein Interactome Reveals Converging Molecular Pathways Among Autism Disorders
Open accessAbstract
We developed an autism protein interaction network that provides a framework for studying autism pathogenesis and reveals shared molecular pathways among distinct autism spectrum disorders.
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In the citing paper
“For example, systematic study has uncovered hundreds of direct protein-protein interactions amongst products of genes previously implicated in ASD, including a network involving SHANK and TSC1 (Sakai et al., 2011).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Sakai et al., 2011
In the citing paper
“This interactome revealed several novel interactions, including between two ASD candidate genes, Shank3 and TSC1.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [70]
In the citing paper
“The second study on molecular convergence in ASD identified protein interactors of known ASD or ASD-associated genes [70].”
From Genetics of autism spectrum disorders (2011) · cites this paper as [70]
In the citing paper
“The biological pathways identified in this study include synapse, cytoskeleton, and GTPase signaling, demonstrating a remarkable overlap with those identified by the gene expression and CNV pathway studies discussed above.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [70]
In the citing paper
“showed that the PPI network seeded around these 35 genes was indeed highly interconnected.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [124]
In the citing paper
“Sakai and colleagues124 carried out a Y2H screen of 35 syndromic or candidate ASD genes and identified many novel PPIs.”
From Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders (2015) · cites this paper as [124]
In the citing paper
“Many studies of complex neuropsychiatric disorders have also concluded that disease-causing variants are often clustered in protein-interaction networks with a high degree of connectivity among themselves and that these clustered networks are often enriched with functional pathways relevant to brain functions [72–80].”
From An integrated analysis of genes and functional pathways for aggression in human and rodent models (2019) · cites this paper as [77]
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Citations
Cites
1 retracted
RETRACTED: Enhanced Polyubiquitination of Shank3 and NMDA Receptor in a Mouse Model of Autism
Bangash, M. A., Park, J. M., Melnikova, T., Wang, D., Jeon, S. K., Lee, D., Syeda, S. K., Kim, J., Kouser, M., Schwartz, J. L., et al. (2011) · Cell · doi:10.1016/j.cell.2011.03.052 · Cited by 116
RetractedRett 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
Self-citationTSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
Inoki, K., Zhu, T., & Guan, K.-L. (2003) · Cell · doi:10.1016/s0092-8674(03)00929-2 · Cited by 3,914
Human Protein Reference Database--2009 update
Prasad, T. S. K., Goel, R., Kandasamy, K., Keerthikumar, S., Kumar, S., Mathivanan, S., Telikicherla, D., Raju, R., Shafreen, R. B., Venugopal, A., et al. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn892 · Cited by 3,252
Towards a proteome-scale map of the human protein–protein interaction network
Rual, J.-F. M., Venkatesan, K., Hao, T., Hirozane-Kishikawa, T., Dricot, A., Li, N., Berriz, G. F., Gibbons, F. D., Dreze, M., Ayivi-Guedehoussou, N., et al. (2005) · Nature · doi:10.1038/nature04209 · Cited by 2,904
Self-citationStrong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
The Wellcome Trust Case Control Consortium, U.K.
Mossman, K. (2008) · Scientific American · doi:10.1038/scientificamerican0108-42a · Cited by 2,714
Functional impact of global rare copy number variation in autism spectrum disorders
Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013
Origins and functional impact of copy number variation in the human genome
The Wellcome Trust Case Control Consortium, Conrad, D. F., Pinto, D., Redon, R., Feuk, L., Gokcumen, O., Zhang, Y., Aerts, J., Andrews, T. D., Barnes, C., et al. (2010) · Nature · doi:10.1038/nature08516 · Cited by 1,970
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
Cited by
Sorted by citations
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism
Parikshak, N. N., Luo, R., Zhang, A., Won, H., Lowe, J. K., Chandran, V., Horvath, S., & Geschwind, D. H. (2013) · Cell · doi:10.1016/j.cell.2013.10.031 · Cited by 1,039
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2
Pejaver, V., Urresti, J., Lugo-Martinez, J., Pagel, K. A., Lin, G. N., Nam, H.-J., Mort, M., Cooper, D. N., Sebat, J., Iakoucheva, L. M., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19669-x · Cited by 923
Genetics of autism spectrum disorders
Geschwind, D. H. (2011) · Trends in Cognitive Sciences · doi:10.1016/j.tics.2011.07.003 · Cited by 696
Genetic architecture in autism spectrum disorder
Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.03.002 · Cited by 545
Metadata
- Authors
- Sakai, Y., Shaw, C. A., Dawson, B. C., Dugas, D. V., Al-Mohtaseb, Z., Hill, D. E., & Zoghbi, H. Y.
- Affiliations
- Howard Hughes Medical Institute (US)
- Baylor College of Medicine (US)
- Harvard University (US)
- Corresponding author
- Shaw, Chad A.
- Zoghbi, Huda Y.
- Venue
- Science Translational Medicine
- Published
- 2011-06-08
- Volume
- 3
- Issue
- 86
- Pages
- 86ra49-86ra49
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3169432
- OpenAlex
- W2126924893
- Cited by
- 226
- References
- 55
- Citations by year
- 2026: 2 · 2025: 9 · 2024: 11 · 2023: 12 · 2022: 15 · 2021: 12 · 2020: 15 · 2019: 12 · 2018: 7 · 2017: 11 · 2016: 18 · 2015: 16 · 2014: 23 · 2013: 26 · 2012: 32
- FWCI
- 13.96
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Howard Hughes Medical Institute
- Japan Society for the Promotion of Science (23810025)
- National Institute of Neurological Disorders and Stroke (R01NS057819)
- Topics
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Bioinformatics and Genomic Networks
- Keywords
- autism spectrum disorder, protein-protein interaction network, shank, TSC1, copy number variation, de novo deletion, Xq28 duplication, PKM2, filamin A, idiopathic autism, syndromic autism, molecular pathways
- MeSH terms
- Animals, Brain, Cell Line, Child Development Disorders, Pervasive, Humans, Infant, Newborn, Nerve Tissue Proteins, Two-Hybrid System Techniques, Protein Interaction Mapping, Immunoprecipitation, Mice
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