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Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation.
López-Erauskin J, Bravo-Hernandez M, Presa M, Baughn MW, Melamed Z, Beccari MS, Agra de Almeida Quadros AR, Arnold-Garcia O, Zuberi A, Ling K, Platoshyn O, Niño-Jara E, Ndayambaje IS, McAlonis-Downes M, Cabrera L, Artates JW, Ryan J, Hermann A, Ravits J, Bennett CF, Jafar-Nejad P, Rigo F, Marsala M, Lutz CM, Cleveland DW, Lagier-Tourenne C. López-Erauskin J, et al. Among authors: mcalonis downes m. Nat Neurosci. 2024 Jan;27(1):34-47. doi: 10.1038/s41593-023-01496-0. Epub 2023 Nov 23. Nat Neurosci. 2024. PMID: 37996528
Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW. Zhu Q, et al. Among authors: mcalonis downes m. Nat Neurosci. 2020 May;23(5):615-624. doi: 10.1038/s41593-020-0619-5. Epub 2020 Apr 13. Nat Neurosci. 2020. PMID: 32284607 Free PMC article.
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43.
Arnold ES, Ling SC, Huelga SC, Lagier-Tourenne C, Polymenidou M, Ditsworth D, Kordasiewicz HB, McAlonis-Downes M, Platoshyn O, Parone PA, Da Cruz S, Clutario KM, Swing D, Tessarollo L, Marsala M, Shaw CE, Yeo GW, Cleveland DW. Arnold ES, et al. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):E736-45. doi: 10.1073/pnas.1222809110. Epub 2013 Feb 4. Proc Natl Acad Sci U S A. 2013. PMID: 23382207 Free PMC article.
Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration.
Lagier-Tourenne C, Baughn M, Rigo F, Sun S, Liu P, Li HR, Jiang J, Watt AT, Chun S, Katz M, Qiu J, Sun Y, Ling SC, Zhu Q, Polymenidou M, Drenner K, Artates JW, McAlonis-Downes M, Markmiller S, Hutt KR, Pizzo DP, Cady J, Harms MB, Baloh RH, Vandenberg SR, Yeo GW, Fu XD, Bennett CF, Cleveland DW, Ravits J. Lagier-Tourenne C, et al. Proc Natl Acad Sci U S A. 2013 Nov 19;110(47):E4530-9. doi: 10.1073/pnas.1318835110. Epub 2013 Oct 29. Proc Natl Acad Sci U S A. 2013. PMID: 24170860 Free PMC article.
Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs.
Jiang J, Zhu Q, Gendron TF, Saberi S, McAlonis-Downes M, Seelman A, Stauffer JE, Jafar-Nejad P, Drenner K, Schulte D, Chun S, Sun S, Ling SC, Myers B, Engelhardt J, Katz M, Baughn M, Platoshyn O, Marsala M, Watt A, Heyser CJ, Ard MC, De Muynck L, Daughrity LM, Swing DA, Tessarollo L, Jung CJ, Delpoux A, Utzschneider DT, Hedrick SM, de Jong PJ, Edbauer D, Van Damme P, Petrucelli L, Shaw CE, Bennett CF, Da Cruz S, Ravits J, Rigo F, Cleveland DW, Lagier-Tourenne C. Jiang J, et al. Neuron. 2016 May 4;90(3):535-50. doi: 10.1016/j.neuron.2016.04.006. Epub 2016 Apr 21. Neuron. 2016. PMID: 27112497 Free PMC article.
ALS/FTD-Linked Mutation in FUS Suppresses Intra-axonal Protein Synthesis and Drives Disease Without Nuclear Loss-of-Function of FUS.
López-Erauskin J, Tadokoro T, Baughn MW, Myers B, McAlonis-Downes M, Chillon-Marinas C, Asiaban JN, Artates J, Bui AT, Vetto AP, Lee SK, Le AV, Sun Y, Jambeau M, Boubaker J, Swing D, Qiu J, Hicks GG, Ouyang Z, Fu XD, Tessarollo L, Ling SC, Parone PA, Shaw CE, Marsala M, Lagier-Tourenne C, Cleveland DW, Da Cruz S. López-Erauskin J, et al. Among authors: mcalonis downes m. Neuron. 2018 Nov 21;100(4):816-830.e7. doi: 10.1016/j.neuron.2018.09.044. Epub 2018 Oct 18. Neuron. 2018. PMID: 30344044 Free PMC article.
Spinal subpial delivery of AAV9 enables widespread gene silencing and blocks motoneuron degeneration in ALS.
Bravo-Hernandez M, Tadokoro T, Navarro MR, Platoshyn O, Kobayashi Y, Marsala S, Miyanohara A, Juhas S, Juhasova J, Skalnikova H, Tomori Z, Vanicky I, Studenovska H, Proks V, Chen P, Govea-Perez N, Ditsworth D, Ciacci JD, Gao S, Zhu W, Ahrens ET, Driscoll SP, Glenn TD, McAlonis-Downes M, Da Cruz S, Pfaff SL, Kaspar BK, Cleveland DW, Marsala M. Bravo-Hernandez M, et al. Among authors: mcalonis downes m. Nat Med. 2020 Jan;26(1):118-130. doi: 10.1038/s41591-019-0674-1. Epub 2019 Dec 23. Nat Med. 2020. PMID: 31873312 Free PMC article.
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