PXD063236

PXD063236 is an original dataset announced via ProteomeXchange.

Title	Plasma proteomics moyamoya disease
Description	Moyamoya disease is a rare cerebrovascular disorder characterized by progressive stenosis of large intracranial arteries and a secondary compensatory network of vulnerable collaterals. While the underlying molecular mechanisms remain unclear, both genetic and immune factors have been implicated, calling for a multiomics approach to study the complex pathogenesis of the disease. We performed whole exosome sequencing and plasma proteomics on a cohort of twelve patients with well-documented moyamoya angiopathy. In addition, we conducted an in-depth single cell spatial proteomics analysis on an occluded artery retrieved post-mortem from one idiopathic patient. Variants in the major susceptibility gene RNF213 were found in three patients, while five patients had other underlying genetic conditions, including trisomy 21 and pathogenic variants in ACTA2, SAMHD1 and NFIA. Plasma proteomics revealed cellular fibronectin as a potential biomarker for moyamoya disease, while artery spatial proteomics profiling showed extensive vascular smooth muscle cell infiltration in the intima associated with phenotypic switching. Moreover, infiltration of macrophages and antigen-presenting cells points to a role for inflammatory signals in disease progression. Together, our study supports a multiomics approach to unravel the complex pathogenesis of moyamoya disease, demonstrating the relevance of genetic and immune triggers in vascular remodeling and moyamoya disease development.
HostingRepository	PRIDE
AnnounceDate	2025-10-20
AnnouncementXML	Submission_2025-10-20_08:59:51.533.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Patrick Willems
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	timsTOF SCP

Revision	Datetime	Status	ChangeLog Entry
0	2025-04-23 04:43:31	ID requested
⏵ 1	2025-10-20 08:59:52	announced

Dataset with its publication pending

submitter keyword: multiomics,Moyamoya disease, stroke, cerebrovascular disorder, FN1, plasma.

Francis Impens
contact affiliation	VIB, Ghent University
contact email	Francis.Impens@UGent.be
lab head
Patrick Willems
contact affiliation	Ghent University
contact email	patwille.willems@ugent.be
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD063236
     1. Label: PRIDE project
     2. Name: Plasma proteomics moyamoya disease