Cited by 60Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersNeuroendocrine regulation and behavior

The mouse Engrailed genes: A window into autism

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KUEMERLE, B, GULDEN, F, CHEROSKY, N, WILLIAMS, E, HERRUP, K·2007·Behavioural Brain Research

Abstract

The complex behavioral symptoms and neuroanatomical abnormalities observed in autistic individuals strongly suggest a multi-factorial basis for this perplexing disease. Although not the perfect model, we believe the Engrailed genes provide an invaluable "window" into the elusive etiology of autism spectrum disorder. The Engrailed-2 gene has been associated with autism in genetic linkage studies. The En2 knock-out mouse harbors cerebellar abnormalities that are similar to those found in autistic individuals and, as we report here, has a distinct anterior shift in the position of the amygdala in the cerebral cortex. Our initial analysis of background effects in the En1 mouse knock-out provides insight as to possible molecular mechanisms and gender differences associated with autism. These findings further the connection between Engrailed and autism and provide new avenues to explore in the ongoing study of the biological basis of this multifaceted disease.

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Crossref · 10.1016/j.bbr.2006.09.009

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  • Animal models with disruptions to En2 and Met demonstrate the importance of these genes to normal cerebellar development.

    “and animal models involving disruptions to these genes have demonstrated their importance to normal cerebellar development [69, 250, 280].”

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Research works printed but not linked: 2

  1. [5]Bachevalier J. The amygdala, social cognition, and autism. In: Aggleton JP, editor. The Amygdala. New York: Oxford University Press; 2003. pp. 509–543. [Google Scholar]
  2. [50]Paxinos G, Franklin K. The Mouse Brain in Steriotactic Coordinates. New York: Academic Press; 2001. [Google Scholar]

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Authors
KUEMERLE, B., GULDEN, F., CHEROSKY, N., WILLIAMS, E., & HERRUP, K.
Affiliations
  • Case Western Reserve University (US)
  • Children's Hospital of Pittsburgh (US)
  • Rutgers, The State University of New Jersey (US)
Corresponding author
HERRUP, K
Venue
Behavioural Brain Research
Publisher
Elsevier BV
Published
2007-01-10
Volume
176
Issue
1
Pages
121-132
ISSN
0166-4328 (ISSN-L)
OpenAlex
W2026199204
Cited by
60
References
66
Citations by year
2024: 1 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 1 · 2019: 2 · 2018: 2 · 2017: 4 · 2016: 3 · 2015: 2 · 2014: 4 · 2013: 8 · 2012: 3
FWCI
2.59
Type
journal article
Language
en
Open access
Locations
  • Behavioural Brain Research (publishedVersion)
  • PubMed (publishedVersion)
  • PubMed Central (acceptedVersion)
  • Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
Funders
National Institute of Neurological Disorders and Stroke (NS18381, R01NS018381)
Topics
  • Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
  • Social Sciences › Psychology › Social Psychology › Neuroendocrine regulation and behavior
Keywords
engrailed, EN2, EN1, autism spectrum disorder, cerebellar abnormalities, cerebral cortex, genetic linkage, background effects, sex differences, neuroanatomical abnormalities
MeSH terms
Engrailed 2 Protein, Amygdala, Animals, Autistic Disorder, Cerebellum, Disease Models, Animal, Genetic Linkage, Mice, Inbred C57BL, Nerve Tissue Proteins, Organ Size, Social Behavior, Mice, Knockout, Homeodomain Proteins, Mice

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