학술논문
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder
Document Type
article
Author
Sukhleen Kour; Deepa S. Rajan; Tyler R. Fortuna; Eric N. Anderson; Caroline Ward; Youngha Lee; Sangmoon Lee; Yong Beom Shin; Jong-Hee Chae; Murim Choi; Karine Siquier; Vincent Cantagrel; Jeanne Amiel; Elliot S. Stolerman; Sarah S. Barnett; Margot A. Cousin; Diana Castro; Kimberly McDonald; Brian Kirmse; Andrea H. Nemeth; Dhivyaa Rajasundaram; A. Micheil Innes; Danielle Lynch; Patrick Frosk; Abigail Collins; Melissa Gibbons; Michele Yang; Isabelle Desguerre; Nathalie Boddaert; Cyril Gitiaux; Siri Lynne Rydning; Kaja K. Selmer; Roser Urreizti; Alberto Garcia-Oguiza; Andrés Nascimento Osorio; Edgard Verdura; Aurora Pujol; Hannah R. McCurry; John E. Landers; Sameer Agnihotri; E. Corina Andriescu; Shade B. Moody; Chanika Phornphutkul; Maria J. Guillen Sacoto; Amber Begtrup; Henry Houlden; Janbernd Kirschner; David Schorling; Sabine Rudnik-Schöneborn; Tim M. Strom; Steffen Leiz; Kali Juliette; Randal Richardson; Ying Yang; Yuehua Zhang; Minghui Wang; Jia Wang; Xiaodong Wang; Konrad Platzer; Sandra Donkervoort; Carsten G. Bönnemann; Matias Wagner; Mahmoud Y. Issa; Hasnaa M. Elbendary; Valentina Stanley; Reza Maroofian; Joseph G. Gleeson; Maha S. Zaki; Jan Senderek; Udai Bhan Pandey
Source
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Subject
Language
English
ISSN
2041-1723
Abstract
GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.