Article
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Cell - 22 Feb 2018
Zhang Shen-Ying, Clark Nathaniel E, Freije Catherine A, Pauwels Elodie, Taggart Allison J, Okada Satoshi, Mandel Hanna, Garcia Paula, Ciancanelli Michael J, Biran Anat, Lafaille Fabien G, Tsumura Miyuki, Cobat Aurélie, Luo Jingchuan, Volpi Stefano, Zimmer Bastian, Sakata Sonoko, Dinis Alexandra, Ohara Osamu, Garcia Reino Eduardo J, Dobbs Kerry, Hasek Mary, Holloway Stephen P, McCammon Karen, Hussong Stacy A, DeRosa Nicholas, Van Skike Candice E, Katolik Adam, Lorenzo Lazaro, Hyodo Maki, Faria Emilia, Halwani Rabih, Fukuhara Rie, Smith Gregory A, Galvan Veronica, Damha Masad J, Al-Muhsen Saleh, Itan Yuval, Boeke Jef D, Notarangelo Luigi D, Studer Lorenz, Kobayashi Masao, Diogo Luisa, Fairbrother William G, Abel Laurent, Rosenberg Brad R, Hart P John, Etzioni Amos, Casanova Jean-Laurent
Abstract excerpt
Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities, each of whom had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus. DBR1 encodes the only known RNA lariat debranching enzyme. We show that DBR1 expression is ubiquitous, but strongest in the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.