ReviewEBioMedicine2025
Impact of ER stress and the unfolded protein response on Fabry disease.
Review in EBioMedicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
6 citing papers in PubMed.
- Mitochondrial stress markers associate with phenotypic variability in Fabry disease.Orphanet journal of rare diseases · 2026Article
- Identification of Potential Proteins Interacting with α-Galactosidase A to Analyze the Pathogenesis of Fabry Disease.International journal of molecular sciences · 2026Article
- Prevalent gut phages encode modular adhesins mediating epithelial binding and endoplasmic reticulum trafficking.Nature communications · 2026Article
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Fabry nephropathy as the clinical anchor for kidney-centered metabolic surveillance: linking genetic heterogeneity to early risk identification.Frontiers in genetics · 2026Review
- Endoplasmic reticulum stress in skeletal muscle dysfunction of type 2 diabetes: mechanisms and therapeutic implications.Frontiers in endocrinology · 2026Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease (FD) is a lysosomal storage disorder caused by pathogenic missense and nonsense variants in the α-galactosidase A (GLA) gene, leading to absent or reduced enzyme activity. The resulting lysosomal accumulation of the substrate globotriaosylceramide leads to progressive renal failure, cardiomyopathy with (malignant) cardiac arrhythmias and progressive heart failure as well as recurrent strokes, which significantly limits the life expectancy of patients affected with FD. There is increasing evidence that pathogenic GLA missense variants as well as formally benign GLA variants can cause retention in the endoplasmic reticulum (ER), resulting in ER stress, which in turn triggers an unfolded protein response (UPR) leading to cellular dysregulation including inflammation, irreversible cell damage, and apoptosis. This review aims to provide an update on the pathogenetic significance of ER stress and UPR in FD, current treatment options, including pharmaceutical and chemical chaperones, and an outlook on current research and future treatment options in FD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.