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GenomicsFrontiers in Genetics
Peer-reviewed journal article

Transcriptomic changes resulting from STK32B overexpression identifies pathways potentially relevant to essential tremor

Calwing LiaoiD, Faezeh Sarayloo, Veikko VuokilaiD, Daniel L. RochefortiD, Fulya AkçimeniD, Simone Diamond, Gabrielle Houle, Alexandre Dionne Laporte, Dan SpiegelmaniD, Qin HeiD, Hélène Catoire, Patrick A. DioniD, Guy Armand RouleauiD

Abstract

Essential tremor (ET) is a common movement disorder that has a high heritability. A number of genetic studies have associated different genes and loci with ET, but few have investigated the biology of any of these genes. STK32B was significantly associated with ET in a large GWAS study and was found to be overexpressed in ET cerebellar tissue. Here, we overexpressed STK32B in human cerebellar DAOY cells and used an RNA-Seq approach to identify differentially expressed genes by comparing the transcriptome profile of these cells to the one of control DAOY cells. Pathway and gene ontology enrichment identified axon guidance, olfactory signalling and calcium-voltage channels as significant. Additionally, we show that overexpressing STK32B affects transcript levels of previously implicated ET genes such as FUS. Our results investigate the effects of overexpressed STK32B and suggest that it may be involved in relevant ET pathways and genes.

PDFDOI

02 /Specification & Classification

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Citations
17
FWCI
1.30
Field percentile
top 17%

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