Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A proteomic atlas phenotyping Fabry disease identifies a precise cardiovascular risk signature that integrates mitochondrial and lysosomal pathways.

Journal of molecular medicine (Berlin, Germany) - 22 May 2026

Santulli Gaetano, Pande Shivangi, Varzideh Fahimeh

Abstract excerpt

Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to progressive accumulation of Gb3 and lyso-Gb3 and a complex multisystem phenotype extending beyond substrate storage. Cardiovascular involvement remains the leading cause of morbidity and mortality, yet early detection and risk stratification remain challenging. In this context, a new proteomic study...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biomarkers
Share to Cardiovascular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fabry Disease

Share to Lysosomes

Share to Mitochondria

Share to Phenotype

Share to Proteome

Share to Proteomics

Source

Identifiers

PMID: 42168444
DOI: 10.1007/s00109-026-02682-w

Genes

CTSF
GDF15
NOS1
TNFRSF11B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A proteomic atlas phenotyping Fabry disease identifies a precise cardiovascular risk signature that integrates mitochondrial and lysosomal pathways.PMID 42168444Read ↗

Deep next-generation proteomics and network analysis reveal systemic and tissue-specific patterns in Fabry disease.Semantic proximity Read ↗

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry DiseaseSemantic proximity Read ↗

Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers.Semantic proximity Read ↗

Fabry disease cardiomyopathy: A state-of-the-art review.Semantic proximity Read ↗

Fabry Disease: Cardiac Implications and Molecular MechanismsSemantic proximity Read ↗

Globotriaosylsphingosine (Lyso-Gb3) as a biomarker for cardiac variant (N215S) Fabry disease.Semantic proximity Read ↗

Prevalence of Fabry disease-causing variants in the UK Biobank.Semantic proximity Read ↗

Impact of ER stress and the unfolded protein response on Fabry diseaseSemantic proximity Read ↗

Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson’s diseaseSemantic proximity Read ↗

Fabry disease: A fundamental genetic modifier of cardiac function.Semantic proximity Read ↗

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.Semantic proximity Read ↗

Fabry disease cardiomyopathy: A practical guide for cardiologists.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.