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http://purl.uniprot.org/citations/27330745http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/27330745http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.org/dc/terms/identifier"doi:10.1186/s40303-016-0017-9"xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"Tourtellotte W.G."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"Folmsbee S.S."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"Gottardi C.J."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"van Roy F."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"van Hengel J."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"Tyberghein K."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"Wilcox D.R."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/author"De Bleser P."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/date"2016"xsd:gYear
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/name"J Mol Psychiatry"xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/pages"2"xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/title"alphaT-catenin in restricted brain cell types and its potential connection to autism."xsd:string
http://purl.uniprot.org/citations/27330745http://purl.uniprot.org/core/volume"4"xsd:string
http://purl.uniprot.org/citations/27330745http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/27330745
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http://purl.uniprot.org/uniprot/A4GE64http://purl.uniprot.org/core/mappedCitationhttp://purl.uniprot.org/citations/27330745
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