ArticleDevelopmental cell2022
Genetic variation associated with condensate dysregulation in disease.
Article in Developmental cell, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers.
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Who cites it
60 citing papers in PubMed.
- Chromatin condensates tune nuclear mechanosensing and preserve nuclear integrity to prevent cGAS activation.The EMBO journal · 2026Article
- Active RNA synthesis patterns nuclear condensates.Cell systems · 2026Article
- A comprehensive benchmark of sequence-based subcellular localization predictors for human proteins.Nature methods · 2026Article
- Analysis and design of disordered polypeptides with optimized sequence patterning properties.PLoS computational biology · 2026Article
- Subcellular localization as a driver of protein function.Nature reviews. Molecular cell biology · 2026Review
- Large RNA polymerase II condensates are promoter-centric assemblies associated with early stages of transcription at all expressed genes.bioRxiv : the preprint server for biology · 2026Article
- FuzDrop: sequence-based prediction of the propensity of proteins for liquid-liquid phase separation and aggregation.Nature protocols · 2026Review
- Analysis and design of disordered polypeptides with optimized sequence patterning properties.bioRxiv : the preprint server for biology · 2026Article
- Regulation of transcription by R loop-nucleated transcription condensate assembly.Cell & bioscience · 2026Review
- Biomolecular Condensates in Disease: Decoding the Material State and Engineering Precision Modulators.International journal of molecular sciences · 2026Review
- Protein codes and mobility together shape cellular function and disease.Trends in biochemical sciences · 2026Review
- Condensatopathies as a mechanistic framework for disease and integrated theranostic intervention.Theranostics · 2026Review
- Article
- Proximal proteomics reveals a landscape of human nuclear condensates.Nature cell biology · 2025Article
- A molecular census to elucidate the demixing mechanism of membraneless organelles.Genome biology · 2025Article
- Phase-separating fusion proteins drive cancer by upsetting transcription regulation.Genome biology · 2025Article
- Beyond peptide targeting sequences: machine learning of cellular condensate localization.Cell research · 2025Article
- A Charge-Driven Strategy for Covalent Modification and Modulation of Biomolecular Condensates.Journal of the American Chemical Society · 2025Article
- Article
- Phase Separation in Chromatin Organization and Human Diseases.International journal of molecular sciences · 2025Review
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12 authors.
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Abstract
A multitude of cellular processes involve biomolecular condensates, which has led to the suggestion that diverse pathogenic mutations may dysregulate condensates. Although proof-of-concept studies have identified specific mutations that cause condensate dysregulation, the full scope of the pathological genetic variation that affects condensates is not yet known. Here, we comprehensively map pathogenic mutations to condensate-promoting protein features in putative condensate-forming proteins and find over 36,000 pathogenic mutations that plausibly contribute to condensate dysregulation in over 1,200 Mendelian diseases and 550 cancers. This resource captures mutations presently known to dysregulate condensates, and experimental tests confirm that additional pathological mutations do indeed affect condensate properties in cells. These findings suggest that condensate dysregulation may be a pervasive pathogenic mechanism underlying a broad spectrum of human diseases, provide a strategy to identify proteins and mutations involved in pathologically altered condensates, and serve as a foundation for mechanistic insights into disease and therapeutic hypotheses.
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