PXD071068

PXD071068 is an original dataset announced via ProteomeXchange.

Title	Proteomic alterations in patient-derived mesenchymal stem cells and their secretomes in osteogenesis imperfecta
Description	Type I collagen is the most abundant form of collagen and forms the organic component of bone. Pathogenic variants in genes encoding its constituent polypeptide chains, COL1A1 and COL1A2, result in autosomal dominant osteogenesis imperfecta. Although osteogenesis imperfecta is clinically well-described, the molecular basis of clinical heterogeneity among patients is not well understood. We undertook a global proteomic approach to uncover alterations in osteogenesis imperfecta patient-derived mesenchymal stem cells (MSCs) as well as their secretome. We performed multiplexed tandem mass tag (TMT)-based proteomics analysis of three patient-derived MSCs along with controls to investigate global changes in the proteome of these cells as well as their secretome. This was combined with analysis of proline hydroxylation to catalog the modification of type I collagens in this disorder. We observed significant changes in both the cellular and secreted proteomes including the levels of proteins involved in osteoblast proliferation such as nitric oxide synthase-interacting protein (NOSIP), secreted frizzled-related protein 1 (SRFP1) and transforming growth factor beta-1-induced transcript 1 protein (TGFB1I1) as well as others involved in endoplasmic reticulum homeostasis such as protein disulfide isomerase A6 (PDIA6) and reticulophagy regulator 3 (RETREG3). Notably, a number of alterations were observed in proline hydroxylation in intracellular collagens – COL1A1 and COL1A2. These findings expand our current understanding of the cellular pathophysiology in osteogenesis imperfecta and could lead to the identification of novel therapeutic targets.
HostingRepository	PRIDE
AnnounceDate	2026-09-09
AnnouncementXML	Submission_2026-09-09_05:53:54.276.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Akhilesh Pandey
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	acetylated residue; monohydroxylated residue; TMT6plex reporter+balance reagent acylated residue; hexosylated residue; deamidated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Eclipse

Revision	Datetime	Status	ChangeLog Entry
0	2025-11-21 19:14:10	ID requested
⏵ 1	2026-09-09 05:53:55	announced

Garapati K, Mun DG, Devasahayam Arokia Balaya R, Saraswat M, Renuse S, Trahan G, Kandasamy RK, Deyle DR, Pandey A, Proteomic alterations in patient bone-derived stromal cells and their secretomes in osteogenesis imperfecta. Mol Genet Metab Rep, 48():101341(2026) [pubmed]

10.1016/j.ymgmr.2026.101341;

submitter keyword: genetic disorder, cell lines, collagen,human

Akhilesh Pandey, M.D., Ph.D.
contact affiliation	Department of Laboratory Medicine and Pathology Mayo Clinic 200 First Street SW Rochester, MN 55905, USA
contact email	pandey.akhilesh@mayo.edu
lab head
Akhilesh Pandey
contact affiliation	Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905
contact email	pandey.akhilesh@mayo.edu
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/PXD071068

PRIDE project URI

• PRIDE
  1. PXD071068
     1. Label: PRIDE project
     2. Name: Proteomic alterations in patient-derived mesenchymal stem cells and their secretomes in osteogenesis imperfecta