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C9orf72 expansion disrupts ATM-mediated chromosomal break repair.
Walker C, Herranz-Martin S, Karyka E, Liao C, Lewis K, Elsayed W, Lukashchuk V, Chiang SC, Ray S, Mulcahy PJ, Jurga M, Tsagakis I, Iannitti T, Chandran J, Coldicott I, De Vos KJ, Hassan MK, Higginbottom A, Shaw PJ, Hautbergue GM, Azzouz M, El-Khamisy SF. Walker C, et al. Among authors: de vos kj. Nat Neurosci. 2017 Sep;20(9):1225-1235. doi: 10.1038/nn.4604. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714954 Free PMC article.
Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients.
Kasher PR, De Vos KJ, Wharton SB, Manser C, Bennett EJ, Bingley M, Wood JD, Milner R, McDermott CJ, Miller CC, Shaw PJ, Grierson AJ. Kasher PR, et al. Among authors: de vos kj. J Neurochem. 2009 Jul;110(1):34-44. doi: 10.1111/j.1471-4159.2009.06104.x. Epub 2009 Apr 22. J Neurochem. 2009. PMID: 19453301 Free article.
Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology.
Tudor EL, Galtrey CM, Perkinton MS, Lau KF, De Vos KJ, Mitchell JC, Ackerley S, Hortobágyi T, Vámos E, Leigh PN, Klasen C, McLoughlin DM, Shaw CE, Miller CC. Tudor EL, et al. Among authors: de vos kj. Neuroscience. 2010 May 19;167(3):774-85. doi: 10.1016/j.neuroscience.2010.02.035. Epub 2010 Feb 24. Neuroscience. 2010. PMID: 20188146
C9ORF72 hexanucleotide repeat exerts toxicity in a stable, inducible motor neuronal cell model, which is rescued by partial depletion of Pten.
Stopford MJ, Higginbottom A, Hautbergue GM, Cooper-Knock J, Mulcahy PJ, De Vos KJ, Renton AE, Pliner H, Calvo A, Chio A, Traynor BJ, Azzouz M, Heath PR; ITALSGEN Consortium, NeuroX Consortium; Kirby J, Shaw PJ. Stopford MJ, et al. Among authors: de vos kj. Hum Mol Genet. 2017 Mar 15;26(6):1133-1145. doi: 10.1093/hmg/ddx022. Hum Mol Genet. 2017. PMID: 28158451 Free PMC article.
The role of mitochondria in amyotrophic lateral sclerosis.
Smith EF, Shaw PJ, De Vos KJ. Smith EF, et al. Among authors: de vos kj. Neurosci Lett. 2019 Sep 25;710:132933. doi: 10.1016/j.neulet.2017.06.052. Epub 2017 Jun 30. Neurosci Lett. 2019. PMID: 28669745 Free article. Review.
40 results