A Rare Motor Neuron Deleterious Missense Mutation in the DPYSL3 (CRMP4) Gene is Associated with ALS. Issue 7 (28th May 2013)

• Record Type: Journal Article
• Authors: Blasco, Hélène; Bernard‐Marissal, Nathalie; Vourc'h, 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
• Is Part Of: Human mutation. Volume 34:Issue 7(2013:Jul.)
• Page Start: 953
• Page End: 960
• Publication Date: 2013-05-28
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22329
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22329-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Twenty‐four hours after electroporation, motor neuron survival was decreased to 58 ± 4% (P &lt; 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 &lt; 0.001) in motor neurons expressing the mutated form of <italic>CRMP4</italic> compared with EGFP expressing cells, whereas expression of the wildtype form of <italic>CRMP4</italic> did not significantly affect axonal growth (87 ± 7%) <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg224gz3kt" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>