The Schizophrenia-Associated 3q29 Deletion: Cross-Species Transcriptional Profiling Converges on Mitochondrial Dysregulation

Biological Psychiatry(2023)

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摘要
Mitochondrial dysfunction is increasingly implicated as a contributor to neurodevelopmental and psychiatric phenotypes. The 1.6 Mb deletion on chromosome 3q29 is associated with a staggering 40-fold increase schizophrenia risk. We have interrogated molecular changes using both human cellular and rodent model systems to identify molecular and cellular changes caused by this high-risk genetic variant.
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关键词
Mitochondria,3q29 Deletion Syndrome,Singlecell RNA-seq,Genetic risk for psychosis
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