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Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia

ABSTRACT: The layered structure of the cerebral cortex is formed through a complicated sequence of highly controlled stages. During this process, the perturbations of neuronal migration and cell division can result in a rare disorder called cortical heterotopia. Heterotopia patients can have recurrent epileptic seizures, developmental delays, and mild intellectual disabilities. Studying heterotopia has been challenging because human mutations linked to the disease often do not result in heterotopia formation in mouse models. EML1 is a microtubule-binding protein, and it stands out as the first heterotopia-associated gene where mutations lead to heterotopia formation in both humans and mice. In this study, we conducted a comparative proteomic analysis of the Eml1 cKO heterotopic mice cortices and neuronal progenitor primary cells during cerebral cortex development. We performed label-free and dimethyl labeling-based quantitative proteomic approaches, and microtubule pelleting assays to understand how Eml1 depletion disrupts protein networks in cortical tissue and neuronal progenitor primary cells during cerebral cortex development.

INSTRUMENT(S):

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Brain

DISEASE(S): Subcortical Band Heterotopia

SUBMITTER: Berfu Nur Yiğit

LAB HEAD: Nurhan Özlu

PROVIDER: PXD052486 | Pride | 2025-07-07

REPOSITORIES: Pride

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Dataset's files

Source:

			Action	DRS
	CortexProteome_combined.zip	Other
	Dimethyllabeling_combined.zip	Other
	KUPAM_202102010_BY_CP_2_4_F2_R2.raw	Raw
	KUPAM_202102010_BY_CP_2_4_F2_R3.raw	Raw
	KUPAM_20210209_BY_CP_2_4_F10_R1.raw	Raw

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Loss of Eml1 alters microtubule-associated protein networks in mouse brain heterotopia

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