Article
Genetic variation associated with condensate dysregulation in disease.
Developmental cell - 25 Jul 2022
Banani Salman F, Afeyan Lena K, Hawken Susana W, Henninger Jonathan E, Dall'Agnese Alessandra, Clark Victoria E, Platt Jesse M, Oksuz Ozgur, Hannett Nancy M, Sagi Ido, Lee Tong Ihn, Young Richard A
Abstract excerpt
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...
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