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Transcriptomic and epigenomic consequences of heterozygous loss of function mutations in <i>AKAP11</i> , the first large-effect shared risk gene for bipolar disorder and schizophrenia

2024-03-15

Abstract excerpt

The gene A-kinase anchoring protein 11 ( AKAP11 ) recently emerged as a shared risk factor between bipolar disorder and schizophrenia, driven by large-effect loss-of-function (LoF) variants. Recent research has uncovered the neurophysiological characteristics and synapse proteomics profile of Akap11 -mutant mouse models. Considering the role of AKAP11 in binding cAMP-dependent protein kinase A (PKA) and mediatin...

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Literature Corpus work
df539a51-e38d-5f47-b2e4-64fbeda0cc9a
DOI
10.1101/2024.03.14.584883
Open publication

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Transcriptomic and epigenomic consequences of heterozygous loss of function mutations in <i>AKAP11</i> , the first large-effect shared risk gene for bipolar disorder and schizophreniaDOI 10.1101/2024.03.14.584883
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