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Single-copy expression of an amyotrophic lateral sclerosis-linked TDP-43 mutation (M337V) in BAC transgenic mice leads to altered stress granule dynamics and progressive motor dysfunction.
Gordon D, Dafinca R, Scaber J, Alegre-Abarrategui J, Farrimond L, Scott C, Biggs D, Kent L, Oliver PL, Davies B, Ansorge O, Wade-Martins R, Talbot K. Gordon D, et al. Neurobiol Dis. 2019 Jan;121:148-162. doi: 10.1016/j.nbd.2018.09.024. Epub 2018 Oct 2. Neurobiol Dis. 2019. PMID: 30290270 Free article.
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Dafinca R, Scaber J, Ababneh N, Lalic T, Weir G, Christian H, Vowles J, Douglas AG, Fletcher-Jones A, Browne C, Nakanishi M, Turner MR, Wade-Martins R, Cowley SA, Talbot K. Dafinca R, et al. Stem Cells. 2016 Aug;34(8):2063-78. doi: 10.1002/stem.2388. Epub 2016 May 4. Stem Cells. 2016. PMID: 27097283 Free PMC article.