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2016 1
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2019 3
2020 3
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2023 2
2024 0

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Page 1
Modelling TDP-43 proteinopathy in Drosophila uncovers shared and neuron-specific targets across ALS and FTD relevant circuits.
Godfrey RK, Alsop E, Bjork RT, Chauhan BS, Ruvalcaba HC, Antone J, Gittings LM, Michael AF, Williams C, Hala'ufia G, Blythe AD, Hall M, Sattler R, Van Keuren-Jensen K, Zarnescu DC. Godfrey RK, et al. Acta Neuropathol Commun. 2023 Oct 20;11(1):168. doi: 10.1186/s40478-023-01656-0. Acta Neuropathol Commun. 2023. PMID: 37864255 Free PMC article.
PIKFYVE inhibition mitigates disease in models of diverse forms of ALS.
Hung ST, Linares GR, Chang WH, Eoh Y, Krishnan G, Mendonca S, Hong S, Shi Y, Santana M, Kueth C, Macklin-Isquierdo S, Perry S, Duhaime S, Maios C, Chang J, Perez J, Couto A, Lai J, Li Y, Alworth SV, Hendricks E, Wang Y, Zlokovic BV, Dickman DK, Parker JA, Zarnescu DC, Gao FB, Ichida JK. Hung ST, et al. Cell. 2023 Feb 16;186(4):786-802.e28. doi: 10.1016/j.cell.2023.01.005. Epub 2023 Feb 7. Cell. 2023. PMID: 36754049 Free PMC article.
TDP-43 proteinopathy alters the ribosome association of multiple mRNAs including the glypican Dally-like protein (Dlp)/GPC6.
Lehmkuhl EM, Loganathan S, Alsop E, Blythe AD, Kovalik T, Mortimore NP, Barrameda D, Kueth C, Eck RJ, Siddegowda BB, Joardar A, Ball H, Macias ME, Bowser R, Van Keuren-Jensen K, Zarnescu DC. Lehmkuhl EM, et al. Acta Neuropathol Commun. 2021 Mar 24;9(1):52. doi: 10.1186/s40478-021-01148-z. Acta Neuropathol Commun. 2021. PMID: 33762006 Free PMC article.
The M1311V variant of ATP7A is associated with impaired trafficking and copper homeostasis in models of motor neuron disease.
Bakkar N, Starr A, Rabichow BE, Lorenzini I, McEachin ZT, Kraft R, Chaung M, Macklin-Isquierdo S, Wingfield T, Carhart B, Zahler N, Chang WH, Bassell GJ, Betourne A, Boulis N, Alworth SV, Ichida JK, August PR, Zarnescu DC, Sattler R, Bowser R. Bakkar N, et al. Neurobiol Dis. 2021 Feb;149:105228. doi: 10.1016/j.nbd.2020.105228. Epub 2020 Dec 24. Neurobiol Dis. 2021. PMID: 33359139 Free PMC article.
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.
Jin SC, Lewis SA, Bakhtiari S, Zeng X, Sierant MC, Shetty S, Nordlie SM, Elie A, Corbett MA, Norton BY, van Eyk CL, Haider S, Guida BS, Magee H, Liu J, Pastore S, Vincent JB, Brunstrom-Hernandez J, Papavasileiou A, Fahey MC, Berry JG, Harper K, Zhou C, Zhang J, Li B, Zhao H, Heim J, Webber DL, Frank MSB, Xia L, Xu Y, Zhu D, Zhang B, Sheth AH, Knight JR, Castaldi C, Tikhonova IR, López-Giráldez F, Keren B, Whalen S, Buratti J, Doummar D, Cho M, Retterer K, Millan F, Wang Y, Waugh JL, Rodan L, Cohen JS, Fatemi A, Lin AE, Phillips JP, Feyma T, MacLennan SC, Vaughan S, Crompton KE, Reid SM, Reddihough DS, Shang Q, Gao C, Novak I, Badawi N, Wilson YA, McIntyre SJ, Mane SM, Wang X, Amor DJ, Zarnescu DC, Lu Q, Xing Q, Zhu C, Bilguvar K, Padilla-Lopez S, Lifton RP, Gecz J, MacLennan AH, Kruer MC. Jin SC, et al. Nat Genet. 2020 Oct;52(10):1046-1056. doi: 10.1038/s41588-020-0695-1. Epub 2020 Sep 28. Nat Genet. 2020. PMID: 32989326 Free PMC article.
22 results