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A Y374X TDP43 truncation leads to an altered metabolic profile in amyotrophic lateral sclerosis fibroblasts driven by pyruvate and TCA cycle intermediate alterations.
Allen SP, Al Sultan A, Kabucho Kibirige E, Tonkiss E, Hamer KJ, Castelli LM, Lin YH, Roscoe S, Stefanidis N, Mead RJ, Highley JR, Cooper-Knock J, Hautbergue GM, Heath PR, Kirby J, Shaw PJ. Allen SP, et al. Among authors: kirby j. Front Aging Neurosci. 2023 May 11;15:1151848. doi: 10.3389/fnagi.2023.1151848. eCollection 2023. Front Aging Neurosci. 2023. PMID: 37251807 Free PMC article.
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ. Mackenzie IR, et al. Among authors: kirby j. Ann Neurol. 2007 May;61(5):427-34. doi: 10.1002/ana.21147. Ann Neurol. 2007. PMID: 17469116
Gene expression assays.
Kirby J, Heath PR, Shaw PJ, Hamdy FC. Kirby J, et al. Adv Clin Chem. 2007;44:247-92. doi: 10.1016/s0065-2423(07)44008-2. Adv Clin Chem. 2007. PMID: 17682345 Review.
Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
Cox LE, Ferraiuolo L, Goodall EF, Heath PR, Higginbottom A, Mortiboys H, Hollinger HC, Hartley JA, Brockington A, Burness CE, Morrison KE, Wharton SB, Grierson AJ, Ince PG, Kirby J, Shaw PJ. Cox LE, et al. Among authors: kirby j. PLoS One. 2010 Mar 24;5(3):e9872. doi: 10.1371/journal.pone.0009872. PLoS One. 2010. PMID: 20352044 Free PMC article.
1,528 results