A tale of (disordered) tail

Although liquid-liquid phase separation (LLPS) has been extensively studied in various cellular and organismal contexts, the link between functional influence of a genetic mutation and LLPS with respect to human diseases is poorly understood. A recent article by Mensah et al. looks at a rare genetic...

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Autores principales: Roychowdhury, Sumangal, Chattopadhyay, Krishnananda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Research Highlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104846/
https://www.ncbi.nlm.nih.gov/pubmed/37059826
http://dx.doi.org/10.1038/s42003-023-04767-5
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author Roychowdhury, Sumangal
Chattopadhyay, Krishnananda
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Chattopadhyay, Krishnananda
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description Although liquid-liquid phase separation (LLPS) has been extensively studied in various cellular and organismal contexts, the link between functional influence of a genetic mutation and LLPS with respect to human diseases is poorly understood. A recent article by Mensah et al. looks at a rare genetic disease to identify a frameshift mutation, which triggered aberrant phase separation and nucleolar dysregulation, linking genetic variants to a dysregulation of biomolecular condensates.
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spelling pubmed-101048462023-04-16 A tale of (disordered) tail Roychowdhury, Sumangal Chattopadhyay, Krishnananda Commun Biol Research Highlight Although liquid-liquid phase separation (LLPS) has been extensively studied in various cellular and organismal contexts, the link between functional influence of a genetic mutation and LLPS with respect to human diseases is poorly understood. A recent article by Mensah et al. looks at a rare genetic disease to identify a frameshift mutation, which triggered aberrant phase separation and nucleolar dysregulation, linking genetic variants to a dysregulation of biomolecular condensates. Nature Publishing Group UK 2023-04-14 /pmc/articles/PMC10104846/ /pubmed/37059826 http://dx.doi.org/10.1038/s42003-023-04767-5 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Research Highlight
Roychowdhury, Sumangal
Chattopadhyay, Krishnananda
A tale of (disordered) tail
title A tale of (disordered) tail
title_full A tale of (disordered) tail
title_fullStr A tale of (disordered) tail
title_full_unstemmed A tale of (disordered) tail
title_short A tale of (disordered) tail
title_sort tale of (disordered) tail
topic Research Highlight
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10104846/
https://www.ncbi.nlm.nih.gov/pubmed/37059826
http://dx.doi.org/10.1038/s42003-023-04767-5
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