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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: gitler ad. 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.
Phenotypic Heterogeneity among GBA p.R202X Carriers in Lewy Body Spectrum Disorders.
Napolioni V, Fredericks CA, Kim Y, Channappa D, Khan RR, Kim LH, Zafar F, Couthouis J, Davidzon GA, Mormino EC, Gitler AD, Montine TJ, Schüle B, Greicius MD. Napolioni V, et al. Among authors: gitler ad. Biomedicines. 2022 Jan 12;10(1):160. doi: 10.3390/biomedicines10010160. Biomedicines. 2022. PMID: 35052839 Free PMC article.
Confirming Pathogenicity of the F386L PSEN1 Variant in a South Asian Family With Early-Onset Alzheimer Disease.
Eger SJ, Le Guen Y, Khan RR, Hall JN, Kennedy G, Zaharchuk G, Couthouis J, Brooks WS, Velakoulis D, Napolioni V, Belloy ME, Dalgard CL, Mormino EC, Gitler AD, Greicius MD. Eger SJ, et al. Among authors: gitler ad. Neurol Genet. 2021 Dec 7;8(1):e647. doi: 10.1212/NXG.0000000000000647. eCollection 2022 Feb. Neurol Genet. 2021. PMID: 34901437 Free PMC article.
You come at the misfolded proteins, you best not miss.
Boeynaems S, Gitler AD. Boeynaems S, et al. Among authors: gitler ad. Trends Biochem Sci. 2022 Jan;47(1):1-2. doi: 10.1016/j.tibs.2021.10.001. Epub 2021 Oct 12. Trends Biochem Sci. 2022. PMID: 34654581
Neurotoxic reactive astrocytes induce cell death via saturated lipids.
Guttenplan KA, Weigel MK, Prakash P, Wijewardhane PR, Hasel P, Rufen-Blanchette U, Münch AE, Blum JA, Fine J, Neal MC, Bruce KD, Gitler AD, Chopra G, Liddelow SA, Barres BA. Guttenplan KA, et al. Among authors: gitler ad. Nature. 2021 Nov;599(7883):102-107. doi: 10.1038/s41586-021-03960-y. Epub 2021 Oct 6. Nature. 2021. PMID: 34616039
A prion-like protein regulator of seed germination undergoes hydration-dependent phase separation.
Dorone Y, Boeynaems S, Flores E, Jin B, Hateley S, Bossi F, Lazarus E, Pennington JG, Michiels E, De Decker M, Vints K, Baatsen P, Bassel GW, Otegui MS, Holehouse AS, Exposito-Alonso M, Sukenik S, Gitler AD, Rhee SY. Dorone Y, et al. Among authors: gitler ad. Cell. 2021 Aug 5;184(16):4284-4298.e27. doi: 10.1016/j.cell.2021.06.009. Epub 2021 Jul 6. Cell. 2021. PMID: 34233164
C9orf72-derived arginine-containing dipeptide repeats associate with axonal transport machinery and impede microtubule-based motility.
Fumagalli L, Young FL, Boeynaems S, De Decker M, Mehta AR, Swijsen A, Fazal R, Guo W, Moisse M, Beckers J, Dedeene L, Selvaraj BT, Vandoorne T, Madan V, van Blitterswijk M, Raitcheva D, McCampbell A, Poesen K, Gitler AD, Koch P, Berghe PV, Thal DR, Verfaillie C, Chandran S, Van Den Bosch L, Bullock SL, Van Damme P. Fumagalli L, et al. Among authors: gitler ad. Sci Adv. 2021 Apr 9;7(15):eabg3013. doi: 10.1126/sciadv.abg3013. Print 2021 Apr. Sci Adv. 2021. PMID: 33837088 Free PMC article.
150 results