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Astrotactin 2 (ASTN2) is a transmembrane neuronal protein highly expressed in the cerebellum that functions in receptor trafficking and modulates cerebellar Purkinje cell (PC) synaptic activity. Individuals with ASTN2 mutations exhibit neurodevelopmental disorders, including autism spectrum disorder...
ORGANISM(S): Mus musculus (Mouse) 
2024-07-30 | PXD052868 | Pride
Mice lacking Astn2 have ASD-like behaviors and altered cerebellar circuit properties
Astrotactin 2 (ASTN2) is a transmembrane, neuronal protein that functions in receptor trafficking and modulates cerebellar Purkinje cell (PC) synaptic activity. We recently reported a family with a paternally inherited intragenic ASTN2 duplication, with a range of neurodevelopmental disorders, inclu...
ORGANISM(S): Mus musculus 
2024-03-07 | GSE254224 | GEO
Analysis of human neuronal cells carrying ASTN2 deletion: A cross-disorder risk variant of psychiatric disorders
Recent genetic studies have found common genomic risk variants among psychiatric disorders, strongly suggesting the overlaps in their molecular and cellular mechanism. Our research group identified the variant in ASTN2 as one of the candidate risk factors across these psychiatric disorders by whole-...
ORGANISM(S): Homo sapiens 
2024-03-07 | GSE260713 | GEO
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