학술논문
A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS
Document Type
Academic Journal
Author
Blasco, Hélène; Bernard-Marissal, Nathalie; Vourcʼh, Patrick; Guettard, Yves Olivier; Sunyach, Claire; Augereau, Olivier; Khederchah, Joelle; Mouzat, Kevin; Antar, Catherine; Gordon, Paul H.; Veyrat-Durebex, Charlotte; Besson, Gérard; Andersen, Peter M.; Salachas, François; Meininger, Vincent; Camu, William; Pettmann, Brigitte; Andres, Christian R.; Corcia, Philippe
Source
Human Mutation. Jul 01, 2013 34(7):953-960
Subject
Language
English
ISSN
1059-7794
Abstract
Twenty-four hours after electroporation, motor neuron survival was decreased to 58 ± 4% (P < 0.001) of expected when expressing mCRMP4 compared with wtCRMP4 or EGFP. Axonal growth, evaluated at 20 hr, was also reduced by 62 ± 10% (P < 0.001) in motor neurons expressing the mutated form of CRMP4 compared with EGFP expressing cells, whereas expression of the wildtype form of CRMP4 did not significantly affect axonal growth (87 ± 7%)