학술논문
CRISPR/Cas9-mediated excision of ALS/FTD-causing hexanucleotide repeat expansion in C9ORF72 rescues major disease mechanisms in vivo and in vitro
Document Type
article
Author
Katharina E. Meijboom; Abbas Abdallah; Nicholas P. Fordham; Hiroko Nagase; Tomás Rodriguez; Carolyn Kraus; Tania F. Gendron; Gopinath Krishnan; Rustam Esanov; Nadja S. Andrade; Matthew J. Rybin; Melina Ramic; Zachary D. Stephens; Alireza Edraki; Meghan T. Blackwood; Aydan Kahriman; Nils Henninger; Jean-Pierre A. Kocher; Michael Benatar; Michael H. Brodsky; Leonard Petrucelli; Fen-Biao Gao; Erik J. Sontheimer; Robert H. Brown; Zane Zeier; Christian Mueller
Source
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Subject
Language
English
ISSN
2041-1723
Abstract
A hexanucleotide repeat expansion in C9ORF72 is the most common genetic cause of ALS and FTD. Here, the authors demonstrate CRISPR/Cas9 excision of the expansion results in a rescue of disease mechanisms in vivo and in vitro.