Loss of the Chr16p11.2 ASD candidate gene QPRT leads to aberrant neuronal differentiation in the SH-SY5Y neuronal cell model.
Denise HaslingerRegina WaltesAfsheen YousafSilvia LindlarInes SchneiderChai K LimMeng-Miao TsaiBoyan K GarvalovAmparo Acker-PalmerNicolas KrezdornBjörn RotterTill AckerGilles J GuilleminSimone FuldaChristine M FreitagAndreas G ChiocchettiPublished in: Molecular autism (2018)
In this study, QPRT was causally related to in vitro neuronal differentiation of SH-SY5Y cells and affected the regulation of genes and gene networks previously implicated in ASD. Thus, our data suggest that QPRT may play an important role in the pathogenesis of ASD in Chr16p11.2 deletion carriers.
Keyphrases
- autism spectrum disorder
- genome wide
- genome wide identification
- attention deficit hyperactivity disorder
- intellectual disability
- induced apoptosis
- cerebral ischemia
- copy number
- genome wide analysis
- single cell
- dna methylation
- cell cycle arrest
- electronic health record
- transcription factor
- big data
- stem cells
- endoplasmic reticulum stress
- gene expression
- blood brain barrier
- bone marrow
- signaling pathway
- oxidative stress
- network analysis