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Comparative brain proteomics in Arx transgenic mice for lissencephaly and epileptic encephalopathy

ABSTRACT: Aristaless-related homeobox (ARX) is an X-linked gene encoding a bi-functional morphogenetic transcription factor with a key role in neuronal migration and brain development. Mutations in ARX have been identified in patients with X-linked Lissencephaly with Abnormal Genitalia (XLAG) and Early-infantile epileptic encephalopathy (EIEE). The aim of this project was to perform a proteomic analysis in whole neonatal brains isolated from XLAG and EIEE mouse models, ArxKO/Y and Arx(GCG)7/Y, to compare the mutant proteome profiles versus the wild-type ones by LC-MS/MS. By comparing the two proteomics profiles, common and different protein regulations emerged. Collectively, these findings could provide novel molecular insights into the proteomic mechanisms underlying XLAG and EIEE pathogenesis and may accelerate the design of pathway-guided therapeutic interventions for ARX-endophenotypes.

INSTRUMENT(S): LTQ Orbitrap

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Brain

DISEASE(S): Lissencephaly,Epilepsy

SUBMITTER: Michele Costanzo

LAB HEAD: Michele Costanzo

PROVIDER: PXD021358 | Pride | 2024-06-14

REPOSITORIES: Pride

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			Action	DRS
	KI_1.msf	Msf
	KI_1.raw	Raw
	KI_2.msf	Msf
	KI_2.raw	Raw
	KI_3.msf	Msf

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