PXD021358

PXD021358 is an original dataset announced via ProteomeXchange.

Title	Comparative brain proteomics in Arx transgenic mice for lissencephaly and epileptic encephalopathy
Description	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.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_06:44:53.976.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Michele Costanzo
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
Instrument	LTQ Orbitrap

Revision	Datetime	Status	ChangeLog Entry
0	2020-09-08 06:25:58	ID requested
1	2024-06-14 06:18:22	announced
⏵ 2	2024-10-22 06:44:54	announced	2024-10-22: Updated project metadata.

10.1093/HMG/DDAC028;

submitter keyword: Aristaless-related homeobox, neuroproteomics, LC-MS/MS

Michele Costanzo
contact affiliation	Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy
contact email	michele.costanzo@unina.it
lab head
Michele Costanzo
contact affiliation	Department of Molecular Medicine and Medical Biotechnology - University of Naples Federico II
contact email	michele.costanzo@unina.it
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD021358
     1. Label: PRIDE project
     2. Name: Comparative brain proteomics in Arx transgenic mice for lissencephaly and epileptic encephalopathy