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NOS1AP is a novel molecular target and critical factor in TDP-43 pathology.
Cappelli S, Spalloni A, Feiguin F, Visani G, Šušnjar U, Brown AL; NYGC ALS Consortium; De Bardi M, Borsellino G, Secrier M, Phatnani H, Romano M, Fratta P, Longone P, Buratti E. Cappelli S, et al. Among authors: secrier m. Brain Commun. 2022 Sep 23;4(5):fcac242. doi: 10.1093/braincomms/fcac242. eCollection 2022. Brain Commun. 2022. PMID: 36267332 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: secrier m. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: secrier m. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease.
Šušnjar U, Škrabar N, Brown AL, Abbassi Y, Phatnani H; NYGC ALS Consortium; Cortese A, Cereda C, Bugiardini E, Cardani R, Meola G, Ripolone M, Moggio M, Romano M, Secrier M, Fratta P, Buratti E. Šušnjar U, et al. Among authors: secrier m. Commun Biol. 2022 Apr 5;5(1):314. doi: 10.1038/s42003-022-03253-8. Commun Biol. 2022. PMID: 35383280 Free PMC article.
Rearrangement processes and structural variations show evidence of selection in oesophageal adenocarcinomas.
Ng AWT, Contino G, Killcoyne S, Devonshire G, Hsu R, Abbas S, Su J, Redmond AM, Weaver JMJ, Eldridge MD, Tavaré S; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Edwards PAW, Fitzgerald RC. Ng AWT, et al. Commun Biol. 2022 Apr 8;5(1):335. doi: 10.1038/s42003-022-03238-7. Commun Biol. 2022. PMID: 35396535 Free PMC article.
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