PXD066805-1

PXD066805 is an original dataset announced via ProteomeXchange.

Title	Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers
Description	Background: Glycogen Storage Disease (GSD) Type Ia and Ib are rare metabolic diseases caused by gene variants in G6PC and SLC37A4 respectively. Patients often suffer from multiple metabolic abnormalities and severe long-term complications. Methods: In this study, we employed comprehensive untargeted proteomics on retrospectively registered samples: 26 serum/plasma samples (18 GSD Ia and 8 GSD Ib) from patients with 21 matched healthy controls, complemented by 4 liver samples from 3 patients who received liver transplantation (3 from GSD Ia including 1 with hepatocellular carcinoma tissue and 1 from GSD Ib), compared to 10 donor liver samples, to investigate the pathological mechanisms of disease complications and identify potential biomarkers. Results: Pathway analysis of the differentially regulated proteins revealed distinct changes in the serum/plasma of GSD Ia and Ib. Coagulation was the most significantly changed biological process in the GSD Ia patients. Immune response-associated proteins, especially a large number of immunoglobulins, increased in GSD Ib specifically. Proteins related to liver injury, cholesterol, and amyloidosis were altered in two subtypes, though more pronounced in GSD Ia. Potential biomarkers with significant alterations both in the circulation as well as in the liver were identified specifically for monitoring and prognosing GSD Ia (COL163 and PROC), GSD Ib (F11 and CD163), and hepatocellular carcinoma (HCC) in GSD Ia patients (ALDOB and CFHR5). Conclusions: These findings provide new insights into the pathogenesis of GSD I-related complications and highlighted the potential of protein circulating biomarkers for monitoring complication progression in GSD Ia and Ib, as well as for assessing HCC risk in GSD Ia patients.
HostingRepository	PRIDE
AnnounceDate	2026-03-06
AnnouncementXML	Submission_2026-03-06_06:38:02.222.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Justina Clarinda Wolters
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	acetylated residue; monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Orbitrap Exploris 480

Revision	Datetime	Status	ChangeLog Entry
0	2025-07-31 07:17:42	ID requested
⏵ 1	2026-03-06 06:38:03	announced

Xiao R, Gross-Valle C, Gerding A, Thorne AM, Oosterveer MH, Derks TGJ, de Meijer VE, Heiner-Fokkema MR, Bakker BM, Wolters JC, Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers. J Transl Med, 24(1):(2026) [pubmed]

10.1186/s12967-026-07747-5;

submitter keyword: Human, liver, GSD I, serum/plasma

Dr. JC Wolters
contact affiliation	Laboratory of Pediatrics, UMCG, The Netherlands
contact email	J.C.Wolters@umcg.nl
lab head
Justina Clarinda Wolters
contact affiliation	UMCG
contact email	j.c.wolters@umcg.nl
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD066805
     1. Label: PRIDE project
     2. Name: Proteomics profiling of serum and liver in GSD Ia and Ib patients: insights into complication mechanisms and circulation biomarkers