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Page 1
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
Nmezi B, Bey GR, Oranburg TD, Dudnyk K, Lardo SM, Herdman N, Jacko A, Rubio S, Alcocer EL, Kofler J, Kim D, Rankin J, Kivuva E, Gutowski N, Schon K, van den Ameele J, Chinnery PF, Sousa SB, Palavra F, Toro C, Pinto E Vairo F, Saute J, Pan L, Alturkustani M, Hammond R, Gros-Louis F, Gold M, Park Y, Bernard G, Raininko R, Zhou J, Hainer SJ, Padiath QS. Nmezi B, et al. Among authors: kofler j. bioRxiv [Preprint]. 2023 Aug 9:2023.08.03.551473. doi: 10.1101/2023.08.03.551473. bioRxiv. 2023. PMID: 37609196 Free PMC article. Preprint.
Circulating senescent myeloid cells drive blood brain barrier breakdown and neurodegeneration.
Wilk CM, Cathomas F, Török O, Le Berichel J, Park MD, Heaton GR, Hamon P, Troncoso L, Scull BP, Dangoor D, Silvin A, Fleischmann R, Belabed M, Lin H, Taouli EM, Boettcher S, Manz MG, Kofler JK, Yue Z, Lira SA, Ginhoux F, Crary JF, McClain KL, Picarsic JL, Russo SJ, Allen CE, Merad M. Wilk CM, et al. Among authors: kofler jk. bioRxiv [Preprint]. 2023 Oct 11:2023.10.10.561744. doi: 10.1101/2023.10.10.561744. bioRxiv. 2023. Update in: Immunity. 2023 Dec 12;56(12):2790-2802.e6. doi: 10.1016/j.immuni.2023.11.011 PMID: 37873371 Free PMC article. Updated. Preprint.
White matter hyperintensity genetic risk factor TRIM47 regulates autophagy in brain endothelial cells.
Yeung SH, Lee RH, Cheng GW, Ma IW, Kofler J, Kent C, Ma F, Herrup K, Fornage M, Arai K, Tse KH. Yeung SH, et al. Among authors: kofler j. bioRxiv [Preprint]. 2024 Jan 2:2023.12.18.566359. doi: 10.1101/2023.12.18.566359. bioRxiv. 2024. Update in: FASEB J. 2024 Oct 15;38(19):e70059. doi: 10.1096/fj.202400689RR PMID: 38187529 Free PMC article. Updated. Preprint.
Marmosets as model systems for the study of Alzheimer's disease and related dementias: substantiation of physiological Tau 3R and 4R isoform expression and phosphorylation.
Huhe H, Shapley SM, Duong D, Wu F, Ha SK, Choi SH, Kofler J, Mou Y, Guimaraes TR, Thathiah A, Schaeffer LKH, Carter GW, Seyfried NT, Silva AC, Sukoff Rizzo SJ. Huhe H, et al. Among authors: kofler j. bioRxiv [Preprint]. 2024 Apr 29:2024.04.26.590453. doi: 10.1101/2024.04.26.590453. bioRxiv. 2024. Update in: Alzheimers Dement. 2024 Nov 19. doi: 10.1002/alz.14366 PMID: 38746277 Free PMC article. Updated. Preprint.
Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing.
Pottier C, Küçükali F, Baker M, Batzler A, Jenkins GD, van Blitterswijk M, Vicente CT, De Coster W, Wynants S, Van de Walle P, Ross OA, Murray ME, Faura J, Haggarty SJ, van Rooij JG, Mol MO, Hsiung GR, Graff C, Öijerstedt L, Neumann M, Asmann Y, McDonnell SK, Baheti S, Josephs KA, Whitwell JL, Bieniek KF, Forsberg L, Heuer H, Lago AL, Geier EG, Yokoyama JS, Oddi AP, Flanagan M, Mao Q, Hodges JR, Kwok JB, Domoto-Reilly K, Synofzik M, Wilke C, Onyike C, Dickerson BC, Evers BM, Dugger BN, Munoz DG, Keith J, Zinman L, Rogaeva E, Suh E, Gefen T, Geula C, Weintraub S, Diehl-Schmid J, Farlow MR, Edbauer D, Woodruff BK, Caselli RJ, Donker Kaat LL, Huey ED, Reiman EM, Mead S, King A, Roeber S, Nana AL, Ertekin-Taner N, Knopman DS, Petersen RC, Petrucelli L, Uitti RJ, Wszolek ZK, Ramos EM, Grinberg LT, Gorno Tempini ML, Rosen HJ, Spina S, Piguet O, Grossman M, Trojanowski JQ, Keene DC, Lee-Way J, Prudlo J, Geschwind DH, Rissman RA, Cruchaga C, Ghetti B, Halliday GM, Beach TG, Serrano GE, Arzberger T, Herms J, Boxer AL, Honig LS, Vonsattel JP, Lopez OL, Kofler J, White CL, Gearing M, Glass J, Rohrer JD, Irwin DJ, Lee EB, Van Deerlin V, Castellani R, Mesulam MM, Tartaglia MC, Finger EC… See abstract for full author list ➔ Pottier C, et al. Among authors: kofler j. medRxiv [Preprint]. 2024 Jun 25:2024.06.24.24309088. doi: 10.1101/2024.06.24.24309088. medRxiv. 2024. PMID: 38978643 Free PMC article. Preprint.
Comorbidities in early-onset sporadic versus presenilin-1 mutation-associated Alzheimer disease dementia: Evidence for dependency on Alzheimer disease neuropathological changes.
Sepulveda-Falla D, Villegas Lanau CA, White Iii C, Serrano GE, Acosta-Uribe J, Mejía-Cupajita B, Villalba-Moreno ND, Lu P, Glatzel M, Kofler JK, Ghetti B, Frosch MP, Restrepo FL, Kosik KS, Beach TG. Sepulveda-Falla D, et al. Among authors: kofler jk. J Neuropathol Exp Neurol. 2024 Dec 4:nlae122. doi: 10.1093/jnen/nlae122. Online ahead of print. J Neuropathol Exp Neurol. 2024. PMID: 39656832
Timeline to symptomatic Alzheimer's disease in people with Down syndrome as assessed by amyloid-PET and tau-PET: a longitudinal cohort study.
Schworer EK, Zammit MD, Wang J, Handen BL, Betthauser T, Laymon CM, Tudorascu DL, Cohen AD, Zaman SH, Ances BM, Mapstone M, Head E, Christian BT, Hartley SL; Alzheimer's Biomarker Consortium–Down Syndrome (ABC–DS). Schworer EK, et al. Lancet Neurol. 2024 Dec;23(12):1214-1224. doi: 10.1016/S1474-4422(24)00426-5. Lancet Neurol. 2024. PMID: 39577922
Marmosets as model systems for the study of Alzheimer's disease and related dementias: Substantiation of physiological tau 3R and 4R isoform expression and phosphorylation.
Huhe H, Shapley SM, Duong DM, Wu F, Ha SK, Choi SH, Kofler J, Mou Y, Guimaraes TR, Thathiah A, Watson CM, Schaeffer LKH, Carter GW, Seyfried NT, Silva AC, Sukoff Rizzo SJ. Huhe H, et al. Among authors: kofler j. Alzheimers Dement. 2024 Nov 19. doi: 10.1002/alz.14366. Online ahead of print. Alzheimers Dement. 2024. PMID: 39559898
The effects of mosaicism on biological and clinical markers of Alzheimer's disease in adults with Down syndrome.
Xicota L, Dang LT, Lee A, Krinsky-McHale S, Pang D, Melilli L, O'Bryant S, Henson RL, Laymon C, Lai F, Rosas HD, Ances B, Lott I, Hom C, Christian B, Hartley S, Zaman S, Head E, Mapstone M, Jin Z, Silverman W, Schupf N, Handen B, Lee JH; Alzheimer's Biomarker Consortium – Down Syndrome (ABC-DS). Xicota L, et al. EBioMedicine. 2024 Dec;110:105433. doi: 10.1016/j.ebiom.2024.105433. Epub 2024 Nov 4. EBioMedicine. 2024. PMID: 39500037 Free PMC article.
340 results