PXD066455

PXD066455 is an original dataset announced via ProteomeXchange.

Title	PLAPAX6: Proteomic study of tears from patients with a PAX6 mutation
Description	The cornea is the eye’s first optical surface, avascular and transparent, covered externally by a stratified epithelium that constantly renews itself. Disruption in this renewal compromises transparency, potentially leading to vision loss. The corneal surface is protected and nourished by the tear film, which contains growth factors vital for corneal maintenance and maturation. Tear composition and function are increasingly well understood. A deeper understanding of lacrimal pathophysiology is essential to developing regenerative therapies for tear gland deficiencies and ocular surface abnormalities. Proteomic analysis of tears enables comprehensive, unbiased evaluation in both normal and pathological states. The transcription factor PAX6 is essential for normal eye development, including the lacrimal gland. Mutations in PAX6 are associated with a range of ocular malformations such as aniridia, anterior segment dysgenesis, dominant keratitis, coloboma, optic nerve hypoplasia, persistent fetal vasculature, and microphthalmia. Some patients also show non-ocular symptoms. In patients with PAX6 mutations, the cornea often shows progressive limbal stem cell deficiency, evolving from peripheral keratopathy to total corneal opacification and fibrosis. Chronic inflammation and tear film abnormalities are frequent and contribute to disease progression. Current treatments for dry eye in these patients are non-specific and include artificial tears, cyclosporine eye drops, punctal plugs, or scleral lenses. Identifying specific qualitative abnormalities in the tear film represents a necessary first step toward developing targeted therapies, such as protein-based eye drops to preserve the cornea in patients with PAX6-related ocular malformations.
HostingRepository	PRIDE
AnnounceDate	2026-09-07
AnnouncementXML	Submission_2026-09-06_17:38:35.670.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Jana Kindermans
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	iodoacetamide derivatized residue
Instrument	timsTOF HT

Revision	Datetime	Status	ChangeLog Entry
0	2025-07-23 02:55:57	ID requested
⏵ 1	2026-09-06 17:38:36	announced

10.1186/s12886-026-04958-8;

Willems M, Vialaret J, Girard M, Feret N, Bremond-Gignac D, Chassaing N, Kindermans J, Fichter L, Hirtz C, Mollevi C, Crowdy H, Pequignot M, Delettre C, Daien V, Michon F, High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridia. BMC Ophthalmol, 26(1):(2026) [pubmed]

submitter keyword: PAX6, aniridia,tears proteomic

Christophe HIRTZ
contact affiliation	LBPC-PPC, Montpellier University, IRMB CHU Montpellier, INM INSERM, Montpellier, Occitanie, France
contact email	christophe.hirtz@umontpellier.fr
lab head
Jana Kindermans
contact affiliation	PPC - CHU Montpellier Saint-Eloi
contact email	j-kindermans@chu-montpellier.fr
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/2026/09/PXD066455

PRIDE project URI

• PRIDE
  1. PXD066455
     1. Label: PRIDE project
     2. Name: PLAPAX6: Proteomic study of tears from patients with a PAX6 mutation