PXD015571

PXD015571 is an original dataset announced via ProteomeXchange.

Title	ECE2 regulates Neurogenesis and Neuronal Migration during Cortical Development.
Description	During embryonic development, the cerebral cortex is equipped with excitatory projection and inhibitory interneurons that migrate in organized layers. Periventricular heterotopia (PH) is a rare and heterogeneous disorder in which a subpopulation of new-born projection neurons fails to initiate their radial migration to the cortex, ultimately resulting in bands or nodules of grey matter lining the lateral ventricles underneath a normal cortex. For many years, few genes had been identified that cause this disorder upon disruption, but recently it was shown that PH is genetically a very heterogeneous disease. Here, we study the neurodevelopmental role of endothelin converting enzyme 2 (ECE2), biallelic mutations in which have been identified in two patients with PH. Our results show that manipulation of ECE2 levels or activity in human cerebral organoids and in the developing mouse cortex leads to ectopic localization of neural progenitors and neurons. We uncover the role of ECE2 in neurogenesis and, mechanistically, we identify its involvement in generation and secretion of extracellular matrix and in protein phosphorylation. This strongly suggests ECE2 as a novel candidate gene for PH.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_04:58:40.273.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Pavel Kielkowski
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2019-09-25 01:36:04	ID requested
1	2020-03-09 06:28:44	announced
2	2020-03-29 23:10:02	announced	2020-03-30: Updated publication reference for PubMed record(s): 32207244.
⏵ 3	2024-10-22 04:58:45	announced	2024-10-22: Updated project metadata.

Buchsbaum IY, Kielkowski P, Giorgio G, O'Neill AC, Di Giaimo R, Kyrousi C, Khattak S, Sieber SA, Robertson SP, Cappello S, ECE2 regulates neurogenesis and neuronal migration during human cortical development. EMBO Rep, 21(5):e48204(2020) [pubmed]

10.15252/embr.201948204;

curator keyword: Biomedical

submitter keyword: CE2, periventricular heterotopia, cerebral organoids, embryonic development

Silvia Cappello
contact affiliation	Max-Planck Institute of Psychiatry
contact email	silvia_cappello@psych.mpg.de
lab head
Pavel Kielkowski
contact affiliation	LMU Munich
contact email	pavel.kielkowski@tum.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/03/PXD015571

PRIDE project URI

• PRIDE
  1. PXD015571
     1. Label: PRIDE project
     2. Name: ECE2 regulates Neurogenesis and Neuronal Migration during Cortical Development.