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Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.
Nementzik LR, Thumbadoo KM, Murray HC, Gordon D, Yang S, Blair IP, Turner C, Faull RLM, Curtis MA, McLean C, Nicholson GA, Swanson MEV, Scotter EL. Nementzik LR, et al. Among authors: scotter el. Brain Pathol. 2024 May;34(3):e13230. doi: 10.1111/bpa.13230. Epub 2023 Dec 19. Brain Pathol. 2024. PMID: 38115557 Free PMC article.
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Muñoz-Blanco JL, Simpson M; SLAGEN Consortium; van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, García-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE. Smith BN, et al. Among authors: scotter el. Neuron. 2014 Oct 22;84(2):324-31. doi: 10.1016/j.neuron.2014.09.027. Epub 2014 Oct 22. Neuron. 2014. PMID: 25374358 Free PMC article.
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways.
Cirulli ET, Lasseigne BN, Petrovski S, Sapp PC, Dion PA, Leblond CS, Couthouis J, Lu YF, Wang Q, Krueger BJ, Ren Z, Keebler J, Han Y, Levy SE, Boone BE, Wimbish JR, Waite LL, Jones AL, Carulli JP, Day-Williams AG, Staropoli JF, Xin WW, Chesi A, Raphael AR, McKenna-Yasek D, Cady J, Vianney de Jong JM, Kenna KP, Smith BN, Topp S, Miller J, Gkazi A; FALS Sequencing Consortium; Al-Chalabi A, van den Berg LH, Veldink J, Silani V, Ticozzi N, Shaw CE, Baloh RH, Appel S, Simpson E, Lagier-Tourenne C, Pulst SM, Gibson S, Trojanowski JQ, Elman L, McCluskey L, Grossman M, Shneider NA, Chung WK, Ravits JM, Glass JD, Sims KB, Van Deerlin VM, Maniatis T, Hayes SD, Ordureau A, Swarup S, Landers J, Baas F, Allen AS, Bedlack RS, Harper JW, Gitler AD, Rouleau GA, Brown R, Harms MB, Cooper GM, Harris T, Myers RM, Goldstein DB. Cirulli ET, et al. Science. 2015 Mar 27;347(6229):1436-41. doi: 10.1126/science.aaa3650. Epub 2015 Feb 19. Science. 2015. PMID: 25700176 Free PMC article.
An anti-inflammatory role for C/EBPδ in human brain pericytes.
Rustenhoven J, Scotter EL, Jansson D, Kho DT, Oldfield RL, Bergin PS, Mee EW, Faull RL, Curtis MA, Graham SE, Park TI, Dragunow M. Rustenhoven J, et al. Among authors: scotter el. Sci Rep. 2015 Jul 13;5:12132. doi: 10.1038/srep12132. Sci Rep. 2015. PMID: 26166618 Free PMC article.
C9ORF72 and UBQLN2 mutations are causes of amyotrophic lateral sclerosis in New Zealand: a genetic and pathologic study using banked human brain tissue.
Scotter EL, Smyth L, Bailey JAWT, Wong CH, de Majo M, Vance CA, Synek BJ, Turner C, Pereira J, Charleston A, Waldvogel HJ, Curtis MA, Dragunow M, Shaw CE, Smith BN, Faull RLM. Scotter EL, et al. Neurobiol Aging. 2017 Jan;49:214.e1-214.e5. doi: 10.1016/j.neurobiolaging.2016.06.019. Epub 2016 Jul 5. Neurobiol Aging. 2017. PMID: 27480424
Interferon-γ blocks signalling through PDGFRβ in human brain pericytes.
Jansson D, Scotter EL, Rustenhoven J, Coppieters N, Smyth LC, Oldfield RL, Bergin PS, Mee EW, Graham ES, Faull RL, Dragunow M. Jansson D, et al. Among authors: scotter el. J Neuroinflammation. 2016 Sep 21;13(1):249. doi: 10.1186/s12974-016-0722-4. J Neuroinflammation. 2016. PMID: 27654972 Free PMC article.
Markers for human brain pericytes and smooth muscle cells.
Smyth LCD, Rustenhoven J, Scotter EL, Schweder P, Faull RLM, Park TIH, Dragunow M. Smyth LCD, et al. Among authors: scotter el. J Chem Neuroanat. 2018 Oct;92:48-60. doi: 10.1016/j.jchemneu.2018.06.001. Epub 2018 Jun 7. J Chem Neuroanat. 2018. PMID: 29885791
PU.1 regulates Alzheimer's disease-associated genes in primary human microglia.
Rustenhoven J, Smith AM, Smyth LC, Jansson D, Scotter EL, Swanson MEV, Aalderink M, Coppieters N, Narayan P, Handley R, Overall C, Park TIH, Schweder P, Heppner P, Curtis MA, Faull RLM, Dragunow M. Rustenhoven J, et al. Among authors: scotter el. Mol Neurodegener. 2018 Aug 20;13(1):44. doi: 10.1186/s13024-018-0277-1. Mol Neurodegener. 2018. PMID: 30124174 Free PMC article.
51 results