The mouse Engrailed genes: A window into autism
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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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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].”
From Consensus Paper: Pathological Role of the Cerebellum in Autism (2012) · cites this paper as [280]
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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)
- PMC
- PMC2791532
- 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
- green
- www.ncbi.nlm.nih.gov
- 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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