PXD065685

PXD065685 is an original dataset announced via ProteomeXchange.

Title	Structure of ATTRv-F64S fibrils isolated from skin tissue of a living patient
Description	Transthyretin-derived amyloidosis (ATTR) is a degenerative, systemic disease characterized by transthyretin fibril deposition in organs like the heart, kidneys, liver, and skin. We report the first cryo-EM structure of transthyretin fibrils isolated from skin tissue of a living patient with a rare genetic mutation (ATTRv F64S). The structure adopts a highly conserved fold previously observed in other ATTR fibrils from different tissues or genetic variants. Mass spectrometry was used to identify common post-translational modifications. The structural consistency between ATTR filaments validates non-invasive skin biopsy as a diagnostic tool.
HostingRepository	PRIDE
AnnounceDate	2025-11-03
AnnouncementXML	Submission_2025-11-03_08:25:55.245.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Matteo Pecoraro
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	methylated residue; trimethylated residue; ubiquitination signature dipeptidyl lysine; phosphorylated residue; acetylated residue; dimethylated residue; iodoacetamide derivatized residue
Instrument	timsTOF HT

Revision	Datetime	Status	ChangeLog Entry
0	2025-07-02 07:13:23	ID requested
⏵ 1	2025-11-03 08:25:55	announced

Dataset with its publication pending

submitter keyword: ATTR, cryo-EM, diagnostic tool, mass spectrometry,Transthyretin, amyloidosis

Andreas Boland
contact affiliation	Department of Molecular and Cellular Biology, University of Geneva, Geneva, Switzerland
contact email	Andreas.Boland@unige.ch
lab head
Matteo Pecoraro
contact affiliation	Institute for Research in Biomedicine, Via Francesco Chiesa 5 - CH-6500 Bellinzona
contact email	matteo.pecoraro@irb.usi.ch
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/2025/11/PXD065685

PRIDE project URI

• PRIDE
  1. PXD065685
     1. Label: PRIDE project
     2. Name: Structure of ATTRv-F64S fibrils isolated from skin tissue of a living patient