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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD.
Ervilha Pereira P, Schuermans N, Meylemans A, LeBlanc P, Versluys L, Copley KE, Rubien JD, Altheimer C, Peetermans M, Debackere E, Vanakker O, Janssens S, Baets J, Verhoeven K, Lammens M, Symoens S, De Paepe B, Barmada SJ, Shorter J, De Bleecker JL, Bogaert E, Dermaut B. Ervilha Pereira P, et al. Among authors: shorter j. Acta Neuropathol. 2023 Jun;145(6):793-814. doi: 10.1007/s00401-023-02565-1. Epub 2023 Mar 31. Acta Neuropathol. 2023. PMID: 37000196 Free PMC article.
Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity.
Bogaert E, Boeynaems S, Kato M, Guo L, Caulfield TR, Steyaert J, Scheveneels W, Wilmans N, Haeck W, Hersmus N, Schymkowitz J, Rousseau F, Shorter J, Callaerts P, Robberecht W, Van Damme P, Van Den Bosch L. Bogaert E, et al. Among authors: shorter j. Cell Rep. 2018 Jul 17;24(3):529-537.e4. doi: 10.1016/j.celrep.2018.06.070. Cell Rep. 2018. PMID: 30021151 Free PMC article.
RNA Binding Antagonizes Neurotoxic Phase Transitions of TDP-43.
Mann JR, Gleixner AM, Mauna JC, Gomes E, DeChellis-Marks MR, Needham PG, Copley KE, Hurtle B, Portz B, Pyles NJ, Guo L, Calder CB, Wills ZP, Pandey UB, Kofler JK, Brodsky JL, Thathiah A, Shorter J, Donnelly CJ. Mann JR, et al. Among authors: shorter j. Neuron. 2019 Apr 17;102(2):321-338.e8. doi: 10.1016/j.neuron.2019.01.048. Epub 2019 Feb 27. Neuron. 2019. PMID: 30826182 Free PMC article.
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation.
Beijer D, Kim HJ, Guo L, O'Donovan K, Mademan I, Deconinck T, Van Schil K, Fare CM, Drake LE, Ford AF, Kochański A, Kabzińska D, Dubuisson N, Van den Bergh P, Voermans NC, Lemmers RJ, van der Maarel SM, Bonner D, Sampson JB, Wheeler MT, Mehrabyan A, Palmer S, De Jonghe P, Shorter J, Taylor JP, Baets J. Beijer D, et al. Among authors: shorter j. JCI Insight. 2021 Jul 22;6(14):e148363. doi: 10.1172/jci.insight.148363. JCI Insight. 2021. PMID: 34291734 Free PMC article.
TDP-43 condensation properties specify its RNA-binding and regulatory repertoire.
Hallegger M, Chakrabarti AM, Lee FCY, Lee BL, Amalietti AG, Odeh HM, Copley KE, Rubien JD, Portz B, Kuret K, Huppertz I, Rau F, Patani R, Fawzi NL, Shorter J, Luscombe NM, Ule J. Hallegger M, et al. Among authors: shorter j. Cell. 2021 Sep 2;184(18):4680-4696.e22. doi: 10.1016/j.cell.2021.07.018. Epub 2021 Aug 10. Cell. 2021. PMID: 34380047 Free PMC article.
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD. Ma XR, et al. Among authors: shorter j. Nature. 2022 Mar;603(7899):124-130. doi: 10.1038/s41586-022-04424-7. Epub 2022 Feb 23. Nature. 2022. PMID: 35197626 Free PMC article.
Heat shock protein Grp78/BiP/HspA5 binds directly to TDP-43 and mitigates toxicity associated with disease pathology.
François-Moutal L, Scott DD, Ambrose AJ, Zerio CJ, Rodriguez-Sanchez M, Dissanayake K, May DG, Carlson JM, Barbieri E, Moutal A, Roux KJ, Shorter J, Khanna R, Barmada SJ, McGurk L, Khanna M. François-Moutal L, et al. Among authors: shorter j. Sci Rep. 2022 May 17;12(1):8140. doi: 10.1038/s41598-022-12191-8. Sci Rep. 2022. PMID: 35581326 Free PMC article.
254 results