Cited by 228Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersBioinformatics and Genomic Networks

Protein interactome reveals converging molecular pathways among autism disorders

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Sakai, Yasunari, Shaw, Chad A., Dawson, Brian C., Dugas, Diana V., Al-Mohtaseb, Zaina, Hill, David E., Zoghbi, Huda Y.·2011·Science Translational Medicine

Abstract

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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Crossref · 10.1126/scitranslmed.3002166

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  • Systematic study has found hundreds of direct protein-protein interactions among products of ASD-implicated genes, including a network involving SHANK and TSC1.

    “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).”
  • The interactome uncovered several new interactions, including one between the ASD candidate genes Shank3 and TSC1.

    “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]

  • A second study of molecular convergence in ASD identified proteins that interact with known ASD or ASD-associated genes.

    “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]

  • This study's biological pathways include synapse, cytoskeleton, and GTPase signaling, and they overlap remarkably with those found in the gene expression and CNV pathway studies discussed above.

    “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]

  • The PPI network seeded around those 35 genes was highly interconnected.

    “showed that the PPI network seeded around these 35 genes was indeed highly interconnected.”

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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
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
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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