The X-linked Aristaless-related homeobox gene (ARX) encodes an interneuron-specific transcription factor (TF) with a key role in mammalian corticogenesis and GABAergic sub-type specification. Elongations in two of its four polyalanine (PolyA) tracts have been found in incurable neurodevelopmental disorders (NDDs), such as intellectual disability (XLID) and infantile spasms, a catastrophic chronic epilepsy resistant to standard cures. Here we report on a single-cell RNA sequencing (scRNA-Seq) study aimed to identify transcriptome landscapes in an epileptogenic niche of the Arx(GCG)7/Y mouse compared to the Wild Type (WT) one. Understanding all these aspects may help us to identify cell-specific epileptic-biomarkers linked to the disease-response that could be used as druggable molecules in anti-epileptic drug discovery research.
Analysis of transcriptome landscapes in the epileptogenic cortex of the Arx(GCG)7/Y mouse
Verrillo L;Mangano E;Consolandi C;Poeta L;Bordoni R;Miano MG
2019
Abstract
The X-linked Aristaless-related homeobox gene (ARX) encodes an interneuron-specific transcription factor (TF) with a key role in mammalian corticogenesis and GABAergic sub-type specification. Elongations in two of its four polyalanine (PolyA) tracts have been found in incurable neurodevelopmental disorders (NDDs), such as intellectual disability (XLID) and infantile spasms, a catastrophic chronic epilepsy resistant to standard cures. Here we report on a single-cell RNA sequencing (scRNA-Seq) study aimed to identify transcriptome landscapes in an epileptogenic niche of the Arx(GCG)7/Y mouse compared to the Wild Type (WT) one. Understanding all these aspects may help us to identify cell-specific epileptic-biomarkers linked to the disease-response that could be used as druggable molecules in anti-epileptic drug discovery research.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
