학술논문
ETNK1 mutations induce a mutator phenotype that can be reverted with phosphoethanolamine
Document Type
article
Author
Diletta Fontana; Mario Mauri; Rossella Renso; Mattia Docci; Ilaria Crespiatico; Lisa M. Røst; Mi Jang; Antonio Niro; Deborah D’Aliberti; Luca Massimino; Mayla Bertagna; Giovanni Zambrotta; Mario Bossi; Stefania Citterio; Barbara Crescenzi; Francesca Fanelli; Valeria Cassina; Roberta Corti; Domenico Salerno; Luca Nardo; Clizia Chinello; Francesco Mantegazza; Cristina Mecucci; Fulvio Magni; Guido Cavaletti; Per Bruheim; Delphine Rea; Steen Larsen; Carlo Gambacorti-Passerini; Rocco Piazza
Source
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)
Subject
Language
English
ISSN
2041-1723
Abstract
ETNK1 mutations are recurrent in leukemia but how they contribute to oncogenesis is still unclear. Here, the authors show that ETNK1 mutations increase mitochondrial activity, ROS and H2AX levels and that these effects can be rescued upon phosphoethanolamine supplementation.