PXD046398-1

PXD046398 is an original dataset announced via ProteomeXchange.

Title	Hereditary POIKTMP caused by FAM111B variants
Description	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare genetic multisystemic fibrosing disorderdisease caused by heterozygous mutations in the FAM111B gene. To date, its molecular pathogenesis remains poorly defined. The FAM111B gene encodes a trypsin-like serine protease, primarily studied in the context of cancer. Intriguingly, the fact that germinal FAM111B variants do not consistently result in tumoral disorders suggests a broader functional scope for this protein that extends beyond its role in cell proliferation. This study comprehensively explored the global cellular landscape of POIKTMP patient cells carrying FAM111B missense variants using a multi-omics strategiy.
HostingRepository	PRIDE
AnnounceDate	2025-09-08
AnnouncementXML	Submission_2025-09-07_20:53:48.789.xml
DigitalObjectIdentifier	https://dx.doi.org/10.6019/PXD046398
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Supported dataset by repository
PrimarySubmitter	E Com
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; deamidated residue; iodoacetamide derivatized residue
Instrument	timsTOF Pro

Revision	Datetime	Status	ChangeLog Entry
0	2023-10-25 12:23:52	ID requested
⏵ 1	2025-09-07 20:53:50	announced

10.6019/PXD046398;

Vignard V, Maillasson M, Bigot A, K, ü, ry S, Besnard T, Broly M, Gu, é, ho A, Com E, Davis E, Deb W, Florenceau L, Sobriel K, M, é, nard G, Gardie B, Goldenberg A, Porrmann J, Richardson R, Ruffier L, Hadj-Rabia S, B, é, zieau S, Barbarot S, Ebstein F, Mercier S, Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-up. EBioMedicine, 119():105864(2025) [pubmed]

10.1016/j.ebiom.2025.105864;

submitter keyword: POIKTMP, fibroblast,human

Sandra Mercier
contact affiliation	Nantes Université, CNRS, INSERM, l’institut du thorax, 44000 Nantes, France
contact email	sandra.mercier@chu-nantes.fr
lab head
E Com
contact affiliation	Protim, Irset, Inserm U1085
contact email	emmanuelle.com@univ-rennes1.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/2025/09/PXD046398

PRIDE project URI

• PRIDE
  1. PXD046398
     1. Label: PRIDE project
     2. Name: Hereditary POIKTMP caused by FAM111B variants