2020
A soluble phosphorylated tau signature links tau, amyloid and the evolution of stages of dominantly inherited Alzheimer’s disease.
Barthélemy NR, Li Y, Joseph-Mathurin N, Gordon BA, Hassenstab J, Benzinger TLS, Buckles V, Fagan AM, Perrin RJ, Goate AM, Morris JC, Karch CM, Xiong C, Allegri R, Mendez PC, Berman SB, Ikeuchi T, Mori H, Shimada H, Shoji M, Suzuki K, Noble J, Farlow M, Chhatwal J, Graff-Radford NR, Salloway S, Schofield PR, Masters CL, Martins RN, O'Connor A, Fox NC, Levin J, Jucker M, Gabelle A, Lehmann S, Sato C, Bateman RJ, McDade E; Dominantly Inherited Alzheimer Network. Nat Med. 2020 Mar;26(3):398-407. doi: 10.1038/s41591-020-0781-z. Epub 2020 Mar 11. PMID: 32161412
Awareness of genetic risk in the Dominantly Inherited Alzheimer Network (DIAN).
Aschenbrenner AJ, James BD, McDade E, Wang G, Lim YY, Benzinger TLS, Cruchaga C, Goate A, Xiong C, Perrin R, Buckles V, Allegri R, Berman SB, Chhatwal JP, Fagan A, Farlow M, O'Connor A, Ghetti B, Graff-Radford N, Goldman J, Gräber S, Karch CM, Lee JH, Levin J, Martins RN, Masters C, Mori H, Noble J, Salloway S, Schofield P, Morris JC, Bateman RJ, Hassenstab J; Dominantly Inherited Alzheimer Network. Alzheimers Dement. 2020 Jan;16(1):219-228. doi: 10.1002/alz.12010. PMID: 31914221
Cell Type-Specific In Vitro Gene Expression Profiling of Stem Cell-Derived Neural Models.
Gregory JA, Hoelzli E, Abdelaal R, Braine C, Cuevas M, Halpern M, Barretto N, Schrode N, Akbalik G, Kang K, Cheng E, Bowles K, Lotz S, Goderie S, Karch CM, Temple S, Goate A, Brennand KJ, Phatnani H. Cells. 2020 Jun 5;9(6):1406. doi: 10.3390/cells9061406. PMID: 32516938
Heavy metals contaminating the environment of a progressive supranuclear palsy cluster induce tau accumulation and cell death in cultured neurons.
Alquezar C, Felix JB, McCandlish E, Buckley BT, Caparros-Lefebvre D, Karch CM, Golbe LI, Kao AW. Sci Rep. 2020 Jan 17;10(1):569. doi: 10.1038/s41598-019-56930-w. PMID: 31953414
Predicting sporadic Alzheimer’s disease progression via inherited Alzheimer’s disease-informed machine-learning.
Franzmeier N, Koutsouleris N, Benzinger T, Goate A, Karch CM, Fagan AM, McDade E, Duering M, Dichgans M, Levin J, Gordon BA, Lim YY, Masters CL, Rossor M, Fox NC, O'Connor A, Chhatwal J, Salloway S, Danek A, Hassenstab J, Schofield PR, Morris JC, Bateman RJ; Alzheimer's disease neuroimaging initiative (ADNI); Dominantly Inherited Alzheimer Network (DIAN), Ewers M. Alzheimers Dement. 2020 Mar;16(3):501-511. doi: 10.1002/alz.12032. Epub 2020 Feb 11. PMID: 32043733
Serum neurofilament light chain levels are associated with white matter integrity in autosomal dominant Alzheimer’s disease.
Schultz SA, Strain JF, Adedokun A, Wang Q, Preische O, Kuhle J, Flores S, Keefe S, Dincer A, Ances BM, Berman SB, Brickman AM, Cash DM, Chhatwal J, Cruchaga C, Ewers M, Fox NN, Ghetti B, Goate A, Graff-Radford NR, Hassenstab JJ, Hornbeck R, Jack C Jr, Johnson K, Joseph-Mathurin N, Karch CM, Koeppe RA, Lee AKW, Levin J, Masters C, McDade E, Perrin RJ, Rowe CC, Salloway S, Saykin AJ, Sperling R, Su Y, Villemagne VL, Vöglein J, Weiner M, Xiong C, Fagan AM, Morris JC, Bateman RJ, Benzinger TLS, Jucker M, Gordon BA; Dominantly Inherited Alzheimer Network. Neurobiol Dis. 2020 Aug;142:104960. doi: 10.1016/j.nbd.2020.104960. Epub 2020 Jun 6. PMID: 32522711
Single-subject grey matter network trajectories over the disease course of autosomal dominant Alzheimer’s disease.
Vermunt L, Dicks E, Wang G, Dincer A, Flores S, Keefe SJ, Berman SB, Cash DM, Chhatwal JP, Cruchaga C, Fox NC, Ghetti B, Graff-Radford NR, Hassenstab J, Karch CM, Laske C, Levin J, Masters CL, McDade E, Mori H, Morris JC, Noble JM, Perrin RJ, Schofield PR, Xiong C, Scheltens P, Visser PJ, Bateman RJ, Benzinger TLS, Tijms BM, Gordon BA; Dominantly Inherited Alzheimer Network (DIAN). Brain Commun. 2020 Jul 15;2(2):fcaa102. doi: 10.1093/braincomms/fcaa102. eCollection 2020. PMID: 32954344
Small vessel disease more than Alzheimer’s disease determines diffusion MRI alterations in memory clinic patients.
Finsterwalder S, Vlegels N, Gesierich B, Araque Caballero MÁ, Weaver NA, Franzmeier N, Georgakis MK, Konieczny MJ, Koek HL, Karch CM, Graff-Radford NR, Salloway S, Oh H, Allegri RF, Chhatwal JP, Jessen F, Düzel E, Dobisch L, Metzger C, Peters O, Incesoy EI, Priller J, Spruth EJ, Schneider A, Fließbach K, Buerger K, Janowitz D, Teipel SJ, Kilimann I, Laske C, Buchmann M, Heneka MT, Brosseron F, Spottke A, Roy N, Ertl-Wagner B, Scheffler K, Seo SW, Kim Y, Na DL, Kim HJ, Jang H, Ewers M, Levin J, Schmidt R, Pasternak O, Dichgans M, Biessels GJ, Duering M; Dominantly Inherited Alzheimer Network (DIAN)* DELCODE study group* Alzheimer's Disease Neuroimaging Initiative (ADNI)* Utrecht VCI study group*. Alzheimers Dement. 2020 Aug 18. doi: 10.1002/alz.12150. Online ahead of print. PMID: 32808747
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S, Pimenova AA, Hayes K, Villa JA, Rosene MJ, Jere M, Goate AM, Karch CM. Neurobiol Dis. 2020 Jun;139:104817. doi: 10.1016/j.nbd.2020.104817. Epub 2020 Feb 19. PMID: 32087291
TFEB regulates lysosomal exocytosis of tau and its loss of function exacerbates tau pathology and spreading.
Xu Y, Du S, Marsh JA, Horie K, Sato C, Ballabio A, Karch CM, Holtzman DM, Zheng H. Mol Psychiatry. 2020 May 4. doi: 10.1038/s41380-020-0738-0. Online ahead of print. PMID: 32366951