Aristaless-related homeobox (ARX) is an X-chromosome gene encoding a transcription factor with a key role in brain development whose mutations may cause X-linked Lissencephaly with Abnormal Genitalia (XLAG) and Developmental and Epileptic Encephalopathy 1 (DEE1). Few data are available on the protein signatures of these allelic phenotypes. Here we report on the label-free quantitative proteomic analysis performed on whole neonatal brains of ArxKO/Y and Arx(GCG)7/Y mice, representative of XLAG and DEE1 conditions, paving the way for the design of pathway-guided therapeutic interventions for ARX-endophenotypes.
Quantitative proteomic analysis of mouse brain in models of neurodevelopmental disorders caused by mutations in Aristaless-related homeobox gene
Verrillo L;Poeta L;Di Schiavi E;Miano MG
2019
Abstract
Aristaless-related homeobox (ARX) is an X-chromosome gene encoding a transcription factor with a key role in brain development whose mutations may cause X-linked Lissencephaly with Abnormal Genitalia (XLAG) and Developmental and Epileptic Encephalopathy 1 (DEE1). Few data are available on the protein signatures of these allelic phenotypes. Here we report on the label-free quantitative proteomic analysis performed on whole neonatal brains of ArxKO/Y and Arx(GCG)7/Y mice, representative of XLAG and DEE1 conditions, paving the way for the design of pathway-guided therapeutic interventions for ARX-endophenotypes.File in questo prodotto:
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