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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: da cruz s. 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.
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. Among authors: da cruz s. 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.
Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration.
Melamed Z, López-Erauskin J, Baughn MW, Zhang O, Drenner K, Sun Y, Freyermuth F, McMahon MA, Beccari MS, Artates JW, Ohkubo T, Rodriguez M, Lin N, Wu D, Bennett CF, Rigo F, Da Cruz S, Ravits J, Lagier-Tourenne C, Cleveland DW. Melamed Z, et al. Among authors: da cruz s. Nat Neurosci. 2019 Feb;22(2):180-190. doi: 10.1038/s41593-018-0293-z. Epub 2019 Jan 14. Nat Neurosci. 2019. PMID: 30643298 Free PMC article.
Enhancing mitochondrial calcium buffering capacity reduces aggregation of misfolded SOD1 and motor neuron cell death without extending survival in mouse models of inherited amyotrophic lateral sclerosis.
Parone PA, Da Cruz S, Han JS, McAlonis-Downes M, Vetto AP, Lee SK, Tseng E, Cleveland DW. Parone PA, et al. Among authors: da cruz s. J Neurosci. 2013 Mar 13;33(11):4657-71. doi: 10.1523/JNEUROSCI.1119-12.2013. J Neurosci. 2013. PMID: 23486940 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. Among authors: da cruz s. 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.
Misfolded SOD1 is not a primary component of sporadic ALS.
Da Cruz S, Bui A, Saberi S, Lee SK, Stauffer J, McAlonis-Downes M, Schulte D, Pizzo DP, Parone PA, Cleveland DW, Ravits J. Da Cruz S, et al. Acta Neuropathol. 2017 Jul;134(1):97-111. doi: 10.1007/s00401-017-1688-8. Epub 2017 Feb 28. Acta Neuropathol. 2017. PMID: 28247063 Free PMC article.
97 results