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αT-catenin in restricted brain cell types and its potential connection to autism

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Abstract
BACKGROUND: Recent genetic association studies have linked the cadherin-based adherens junction protein alpha-T-catenin (αT-cat, CTNNA3) with the development of autism. Where αT-cat is expressed in the brain, and how its loss could contribute to this disorder, are entirely unknown. METHODS: We used the αT-cat knockout mouse to examine the localization of αT-cat in the brain, and we used histology and immunofluorescence analysis to examine the neurobiological consequences of its loss. RESULTS: We found that αT-cat comprises the ependymal cell junctions of the ventricles of the brain, and its loss led to compensatory upregulation of αE-cat expression. Notably, αT-cat was not detected within the choroid plexus, which relies on cell junction components common to typical epithelial cells. While αT-cat was not detected in neurons of the cerebral cortex, it was abundantly detected within neuronal structures of the molecular layer of the cerebellum. Although αT-cat loss led to no overt differences in cerebral or cerebellar structure, RNA-sequencing analysis from wild type versus knockout cerebella identified a number of disease-relevant signaling pathways associated with αT-cat loss, such as GABA-A receptor activation. CONCLUSIONS: These findings raise the possibility that the genetic associations between αT-cat and autism may be due to ependymal and cerebellar defects, and highlight the potential importance of a seemingly redundant adherens junction component to a neurological disorder.

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MLA
Folmsbee, Stephen Sai, et al. “ΑT-Catenin in Restricted Brain Cell Types and Its Potential Connection to Autism.” JOURNAL OF MOLECULAR PSYCHIATRY, vol. 4, 2016, doi:10.1186/s40303-016-0017-9.
APA
Folmsbee, S. S., Wilcox, D. R., Tyberghein, K., De Bleser, P., Tourtellotte, W. G., van Hengel, J., … Gottardi, C. J. (2016). αT-catenin in restricted brain cell types and its potential connection to autism. JOURNAL OF MOLECULAR PSYCHIATRY, 4. https://doi.org/10.1186/s40303-016-0017-9
Chicago author-date
Folmsbee, Stephen Sai, Douglas R Wilcox, Koen Tyberghein, Pieter De Bleser, Warren G Tourtellotte, Jolanda van Hengel, Frans Van Roy, and Cara J Gottardi. 2016. “ΑT-Catenin in Restricted Brain Cell Types and Its Potential Connection to Autism.” JOURNAL OF MOLECULAR PSYCHIATRY 4. https://doi.org/10.1186/s40303-016-0017-9.
Chicago author-date (all authors)
Folmsbee, Stephen Sai, Douglas R Wilcox, Koen Tyberghein, Pieter De Bleser, Warren G Tourtellotte, Jolanda van Hengel, Frans Van Roy, and Cara J Gottardi. 2016. “ΑT-Catenin in Restricted Brain Cell Types and Its Potential Connection to Autism.” JOURNAL OF MOLECULAR PSYCHIATRY 4. doi:10.1186/s40303-016-0017-9.
Vancouver
1.
Folmsbee SS, Wilcox DR, Tyberghein K, De Bleser P, Tourtellotte WG, van Hengel J, et al. αT-catenin in restricted brain cell types and its potential connection to autism. JOURNAL OF MOLECULAR PSYCHIATRY. 2016;4.
IEEE
[1]
S. S. Folmsbee et al., “αT-catenin in restricted brain cell types and its potential connection to autism,” JOURNAL OF MOLECULAR PSYCHIATRY, vol. 4, 2016.
@article{8522270,
  abstract     = {{BACKGROUND: Recent genetic association studies have linked the cadherin-based adherens junction protein alpha-T-catenin (αT-cat, CTNNA3) with the development of autism. Where αT-cat is expressed in the brain, and how its loss could contribute to this disorder, are entirely unknown.
METHODS: We used the αT-cat knockout mouse to examine the localization of αT-cat in the brain, and we used histology and immunofluorescence analysis to examine the neurobiological consequences of its loss.
RESULTS: We found that αT-cat comprises the ependymal cell junctions of the ventricles of the brain, and its loss led to compensatory upregulation of αE-cat expression. Notably, αT-cat was not detected within the choroid plexus, which relies on cell junction components common to typical epithelial cells. While αT-cat was not detected in neurons of the cerebral cortex, it was abundantly detected within neuronal structures of the molecular layer of the cerebellum. Although αT-cat loss led to no overt differences in cerebral or cerebellar structure, RNA-sequencing analysis from wild type versus knockout cerebella identified a number of disease-relevant signaling pathways associated with αT-cat loss, such as GABA-A receptor activation.
CONCLUSIONS: These findings raise the possibility that the genetic associations between αT-cat and autism may be due to ependymal and cerebellar defects, and highlight the potential importance of a seemingly redundant adherens junction component to a neurological disorder.}},
  articleno    = {{2}},
  author       = {{Folmsbee, Stephen Sai and Wilcox, Douglas R and Tyberghein, Koen and De Bleser, Pieter and Tourtellotte, Warren G and van Hengel, Jolanda and Van Roy, Frans and Gottardi, Cara J}},
  issn         = {{2049-9256}},
  journal      = {{JOURNAL OF MOLECULAR PSYCHIATRY}},
  language     = {{eng}},
  pages        = {{13}},
  title        = {{αT-catenin in restricted brain cell types and its potential connection to autism}},
  url          = {{http://doi.org/10.1186/s40303-016-0017-9}},
  volume       = {{4}},
  year         = {{2016}},
}

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