Aberrant phase separation: linking IDR mutations to disease
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LLPS is often driven by proteins containing intrinsically disordered regions (IDRs), which facilitate multivalent interactions and dynamic condensate assembly.
“LLPS is often driven by proteins containing intrinsically disordered regions (IDRs), which facilitate multivalent interactions and dynamic condensate assembly. 21”
From Aberrant phase separation from a rare <i>ABI3</i> mutation drives microglial dysfunction and Alzheimer's risk (2026) · cites this paper as [21]
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Research works printed but not linked: 1
- Zarin, T. et al. Elife 10, e60220 (2021).
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Li, S., Lu, J., Zeng, K., Lu, X., Zhang, J., Feng, S., Liang, C., Cai, Y., Yao, S., Huang, Q., et al. (2026) · Alzheimer's & Dementia · doi:10.1002/alz.71812
- Authors
- Ahmed, R., & Forman-Kay, J. D.
- Affiliations
- University of Toronto (CA)
- Corresponding author
- Forman-Kay, Julie D.
- Venue
- Cell Research
- Published
- 2023-04-04
- Volume
- 33
- Issue
- 8
- Pages
- 583-584
- ISSN
- 1001-0602 (ISSN-L)
- 1748-7838
- PMC
- PMC10397348
- OpenAlex
- W4362601765
- Cited by
- 10
- References
- 0
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 3 · 2023: 1
- FWCI
- 0.89
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell Research (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Gouvernement du Canada | Canadian Institutes of Health Research (CIHR FND-148375)
- Gouvernement du Canada | Natural Sciences and Engineering Research Council of Canada (NSERC 2016-06718, RN444138-458819)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Protein Structure and Dynamics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nuclear Structure and Function
- Keywords
- intrinsically disordered regions, frameshift mutation, phase separation, biomolecular condensates, nucleolus, protein mislocalization, nucleolar function, disease-associated variants
- MeSH terms
- Disease, Humans, Mutation
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