PXD055364

PXD055364 is an original dataset announced via ProteomeXchange.

Title	Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice
Description	DYT-THAP1 dystonia is a monogenetic form of dystonia, a movement disorder characterized by involuntary muscle contractions. The disease is caused by mutations in the THAP1 gene, although the exact mechanisms through which these mutations contribute to dystonia's pathophysiology remain elusive. The incomplete penetrance of DYT-tHAP1 dystonia, estimated between 40-60%, indicated that an environmental trigger might be necessary for the disease to manifest in genetically predisposed individuals. To explore the gene-environment interaction in dystonia development, we performed a sciatic nerve crush injury in a genetically predisposed DYTHAP1 heterozygous knockout mouse mode (Thap1+/-). Using a multi-omic approach, we investigated the underlying pathophysiological pathways. Phenotypic analysis with an unbiased deep learning algorithm showed that nerve-injured Thap1+/- mice exhibited more dystonia-like movements over the 12-week experiment than naive Thap1+/- mice. Multi-omic analysis of the cerebellum, striatum, and cortex in nerve-injured Thap1+/- mice revealed altered energy metabolism compared to naive Thap1+/- and nerve-injured wildtype mice. These findings suggest that abnormal energy metabolism in the cerebellum, striatum, and cortex may contribute to the dystonic features observed in nerve-injured Thap1+/- mice.
HostingRepository	PRIDE
AnnounceDate	2025-01-03
AnnouncementXML	Submission_2025-01-03_06:11:59.475.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Colette Reinhold
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Fusion

Revision	Datetime	Status	ChangeLog Entry
0	2024-08-29 11:14:55	ID requested
⏵ 1	2025-01-03 06:11:59	announced

10.1016/J.NBD.2024.106783;

submitter keyword: Striatum, Cerebellum, Mouse, Cortex,DYT-THAP1

Chi Wang
contact affiliation	Neurologische Klinik und Poliklinik des Universitätsklinikums Neurology Josef-Schneider-Straße 11 97080 Würzburg Germany
contact email	Ip_c@ukw.de
lab head
Colette Reinhold
contact affiliation	University Hospital Wuerzburg
contact email	colette.reinhold@gmail.com
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD055364
     1. Label: PRIDE project
     2. Name: Peripheral nerve injury induces dystonia-like movements and dysregulation in the energy metabolism: A multi-omics descriptive study in Thap1+/− mice