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Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death.
Keatinge M, Bui H, Menke A, Chen YC, Sokol AM, Bai Q, Ellett F, Da Costa M, Burke D, Gegg M, Trollope L, Payne T, McTighe A, Mortiboys H, de Jager S, Nuthall H, Kuo MS, Fleming A, Schapira AH, Renshaw SA, Highley JR, Chacinska A, Panula P, Burton EA, O'Neill MJ, Bandmann O. Keatinge M, et al. Among authors: highley jr. Hum Mol Genet. 2015 Dec 1;24(23):6640-52. doi: 10.1093/hmg/ddv369. Epub 2015 Sep 16. Hum Mol Genet. 2015. PMID: 26376862 Free PMC article.
TIGAR inclusion pathology is specific for Lewy body diseases.
López KLR, Simpson JE, Watson LC, Mortiboys H, Hautbergue GM, Bandmann O, Highley JR. López KLR, et al. Among authors: highley jr. Brain Res. 2019 Mar 1;1706:218-223. doi: 10.1016/j.brainres.2018.09.032. Epub 2018 Sep 26. Brain Res. 2019. PMID: 30267647 Free article.
C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.
Cooper-Knock J, Frolov A, Highley JR, Charlesworth G, Kirby J, Milano A, Hartley J, Ince PG, McDermott CJ, Lashley T, Revesz T, Shaw PJ, Wood NW, Bandmann O. Cooper-Knock J, et al. Among authors: highley jr. Neurology. 2013 Aug 27;81(9):808-11. doi: 10.1212/WNL.0b013e3182a2cc38. Epub 2013 Jul 24. Neurology. 2013. PMID: 23884045 Free PMC article.
Review: Microglia in motor neuron disease.
Ashford BA, Boche D, Cooper-Knock J, Heath PR, Simpson JE, Highley JR. Ashford BA, et al. Among authors: highley jr. Neuropathol Appl Neurobiol. 2021 Feb;47(2):179-197. doi: 10.1111/nan.12640. Epub 2020 Jul 21. Neuropathol Appl Neurobiol. 2021. PMID: 32594542 Free article. Review.
Gene expression signatures in motor neurone disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions.
Raman R, Allen SP, Goodall EF, Kramer S, Ponger LL, Heath PR, Milo M, Hollinger HC, Walsh T, Highley JR, Olpin S, McDermott CJ, Shaw PJ, Kirby J. Raman R, et al. Among authors: highley jr. Neuropathol Appl Neurobiol. 2015 Feb;41(2):201-26. doi: 10.1111/nan.12147. Neuropathol Appl Neurobiol. 2015. PMID: 24750211 Free PMC article.
Loss of nuclear TDP-43 in amyotrophic lateral sclerosis (ALS) causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurones.
Highley JR, Kirby J, Jansweijer JA, Webb PS, Hewamadduma CA, Heath PR, Higginbottom A, Raman R, Ferraiuolo L, Cooper-Knock J, McDermott CJ, Wharton SB, Shaw PJ, Ince PG. Highley JR, et al. Neuropathol Appl Neurobiol. 2014 Oct;40(6):670-85. doi: 10.1111/nan.12148. Neuropathol Appl Neurobiol. 2014. PMID: 24750229
57 results