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A novel p.E121G SOD1 mutation in slowly progressive form of amyotrophic lateral sclerosis induces cytoplasmic aggregates in cultured motor neurons and reduces cell viability.
Dangoumau A, Deschamps R, Veyrat-Durebex C, Pettmann B, Corcia P, Andres CR, Vourc'h P. Dangoumau A, et al. Among authors: pettmann b. Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):131-4. doi: 10.3109/21678421.2014.965179. Epub 2014 Oct 22. Amyotroph Lateral Scler Frontotemporal Degener. 2015. PMID: 25336041
A rare motor neuron deleterious missense mutation in the DPYSL3 (CRMP4) gene is associated with ALS.
Blasco H, Bernard-Marissal N, Vourc'h P, Guettard YO, Sunyach C, Augereau O, Khederchah J, Mouzat K, Antar C, Gordon PH, Veyrat-Durebex C, Besson G, Andersen PM, Salachas F, Meininger V, Camu W, Pettmann B, Andres CR, Corcia P; French ALS Study Group. Blasco H, et al. Among authors: pettmann b. Hum Mutat. 2013 Jul;34(7):953-60. doi: 10.1002/humu.22329. Epub 2013 May 28. Hum Mutat. 2013. PMID: 23568759
Enhanced neuronal Met signalling levels in ALS mice delay disease onset.
Genestine M, Caricati E, Fico A, Richelme S, Hassani H, Sunyach C, Lamballe F, Panzica GC, Pettmann B, Helmbacher F, Raoul C, Maina F, Dono R. Genestine M, et al. Among authors: pettmann b. Cell Death Dis. 2011 Mar 17;2(3):e130. doi: 10.1038/cddis.2011.11. Cell Death Dis. 2011. PMID: 21412276 Free PMC article.
Collapsin response mediator protein 4a (CRMP4a) is upregulated in motoneurons of mutant SOD1 mice and can trigger motoneuron axonal degeneration and cell death.
Duplan L, Bernard N, Casseron W, Dudley K, Thouvenot E, Honnorat J, Rogemond V, De Bovis B, Aebischer P, Marin P, Raoul C, Henderson CE, Pettmann B. Duplan L, et al. Among authors: pettmann b. J Neurosci. 2010 Jan 13;30(2):785-96. doi: 10.1523/JNEUROSCI.5411-09.2010. J Neurosci. 2010. PMID: 20071543 Free PMC article.
73 results