Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders

Eliezer Calo, Bo Gu, Margot E. Bowen, Fardin Aryan, Antoine Zalc, Jialiang Liang, Ryan A. Flynn, Tomek Swigut, Howard Y. Chang, Laura D. Attardi and Joanna Wysocka ()
Additional contact information
Eliezer Calo: Massachusetts Institute of Technology
Bo Gu: Stanford University School of Medicine
Margot E. Bowen: Stanford University School of Medicine
Fardin Aryan: Massachusetts Institute of Technology
Antoine Zalc: Stanford University School of Medicine
Jialiang Liang: Massachusetts Institute of Technology
Ryan A. Flynn: Stanford University
Tomek Swigut: Stanford University School of Medicine
Howard Y. Chang: Center for Personal Dynamic Regulomes, Stanford University
Laura D. Attardi: Stanford University School of Medicine
Joanna Wysocka: Stanford University School of Medicine

Nature, 2018, vol. 554, issue 7690, 112-117

Abstract: Mutations associated with Treacher Collins syndrome perturb the subnuclear localization of an RNA helicase involved in ribosome biogenesis through activation of p53 protein, illustrating how disruption in general regulators that compromise nucleolar homeostasis can result in tissue-selective malformations.

Date: 2018
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DOI: 10.1038/nature25449

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