ReviewEULAR rheumatology open2026
Molecular mechanisms in rare proteasomopathies.
Review in EULAR rheumatology open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
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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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Proteasomopathies comprise rare interferonopathy-related syndromes caused by genetic defects in proteasomal subunits or their assembly factors resulting in failed proteasome biogenesis and/or function. The concomitant proteasome impairment leads to imbalanced protein homeostasis by dysfunctional ubiquitin-mediated protein degradation. Two distinct clinical phenotypes have been characterised in proteasomopathies so far: (i) proteasome-associated autoinflammatory syndromes and (ii) proteasome-associated neurodevelopmental disorders. Despite these differences, both syndromes show molecular similarities with protein aggregation, activated stress responses, metabolic imbalance and dysregulated type I interferon signalling. Diagnostics and clinical management are complex even if genetic information is available. Here, we integrate the current knowledge of mammalian proteasome biogenesis with structural modelling of known proteasomopathy-causing variants and discuss the innovations of structural modelling to accelerate diagnosis.
Identifiers
What Socratic 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 Socratic graph.