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
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
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
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
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
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
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
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
Association of Longitudinal Changes in Cerebrospinal Fluid Total Tau and Phosphorylated Tau 181 and Brain Atrophy With Disease Progression in Patients With Alzheimer Disease.
Llibre-Guerra JJ, Li Y, Schindler SE, Gordon BA, Fagan AM, Morris JC, Benzinger TLS, Hassenstab J, Wang G, Allegri R, Berman SB, Chhatwal J, Farlow MR, Holtzman DM, Jucker M, Levin J, Noble JM, Salloway S, Schofield P, Karch C, Fox NC, Xiong C, Bateman RJ, McDade E. JAMA Netw Open. 2019 Dec 2;2(12):e1917126. doi: 10.1001/jamanetworkopen.2019.17126. PMID: 31825500
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.
Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR, Spina S, Silva MC, Marsh JA, Hsu S, Pugh DA, Ghoshal N, Norton J, Huang Y, Lee SE, Seeley WW, Theofilas P, Grinberg LT, Moreno F, McIlroy K, Boeve BF, Cairns NJ, Crary JF, Haggarty SJ, Ichida JK, Kosik KS, Miller BL, Gan L, Goate AM, Temple S; Tau Consortium Stem Cell Group. Stem Cell Reports. 2019 Nov 12;13(5):939-955. doi: 10.1016/j.stemcr.2019.09.006. Epub 2019 Oct 17. PMID: 31631020
An atlas of cortical circular RNA expression in Alzheimer disease brains demonstrates clinical and pathological associations.
Dube U, Del-Aguila JL, Li Z, Budde JP, Jiang S, Hsu S, Ibanez L, Fernandez MV, Farias F, Norton J, Gentsch J, Wang F; Dominantly Inherited Alzheimer Network (DIAN), Salloway S, Masters CL, Lee JH, Graff-Radford NR, Chhatwal JP, Bateman RJ, Morris JC, Karch CM, Harari O, Cruchaga C. Nat Neurosci. 2019 Nov;22(11):1903-1912. doi: 10.1038/s41593-019-0501-5. Epub 2019 Oct 7. PMID: 31591557
Pathological Progression Induced by the Frontotemporal Dementia-Associated R406W Tau Mutation in Patient-Derived iPSCs.
Nakamura M, Shiozawa S, Tsuboi D, Amano M, Watanabe H, Maeda S, Kimura T, Yoshimatsu S, Kisa F, Karch CM, Miyasaka T, Takashima A, Sahara N, Hisanaga SI, Ikeuchi T, Kaibuchi K, Okano H. Stem Cell Reports. 2019 Oct 8;13(4):684-699. doi: 10.1016/j.stemcr.2019.08.011. Epub 2019 Sep 19. PMID: 31543469
Pathogenic Tau Impairs Axon Initial Segment Plasticity and Excitability Homeostasis.
Sohn PD, Huang CT, Yan R, Fan L, Tracy TE, Camargo CM, Montgomery KM, Arhar T, Mok SA, Freilich R, Baik J, He M, Gong S, Roberson ED, Karch CM, Gestwicki JE, Xu K, Kosik KS, Gan L. Neuron. 2019 Nov 6;104(3):458-470.e5. doi: 10.1016/j.neuron.2019.08.008. Epub 2019 Sep 18. PMID: 31542321
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk.
Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JL, Dube U, Farias FG, Bradley J, Budde J, Ibanez L, Fernandez MV, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Benitez BA, Karch CM, Piccio L, Cruchaga C. Sci Transl Med. 2019 Aug 14;11(505):eaau2291. doi: 10.1126/scitranslmed.aau2291.PMID: 31413141
Genetic variation across RNA metabolism and cell death gene networks is implicated in the semantic variant of primary progressive aphasia.
Bonham LW, Steele NZR, Karch CM, Broce I, Geier EG, Wen NL, Momeni P, Hardy J, Miller ZA, Gorno-Tempini ML, Hess CP, Lewis P, Miller BL, Seeley WW, Manzoni C, Desikan RS, Baranzini SE, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC). Sci Rep. 2019 Jul 26;9(1):10854. doi: 10.1038/s41598-019-46415-1. PMID: 31350420
SILK studies – capturing the turnover of proteins linked to neurodegenerative diseases.
Paterson RW, Gabelle A, Lucey BP, Barthélemy NR, Leckey CA, Hirtz C, Lehmann S, Sato C, Patterson BW, West T, Yarasheski K, Rohrer JD, Wildburger NC, Schott JM, Karch CM, Wray S, Miller TM, Elbert DL, Zetterberg H, Fox NC, Bateman RJ. Nat Rev Neurol. 2019 Jul;15(7):419-427. doi: 10.1038/s41582-019-0222-0. Epub 2019 Jun 20. PMID: 31222062
A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy.
Hernandez I, Luna G, Rauch JN, Reis SA, Giroux M, Karch CM, Boctor D, Sibih YE, Storm NJ, Diaz A, Kaushik S, Zekanowski C, Kang AA, Hinman CR, Cerovac V, Guzman E, Zhou H, Haggarty SJ, Goate AM, Fisher SK, Cuervo AM, Kosik KS. Sci Transl Med. 2019 Mar 27;11(485):eaat3005. doi: 10.1126/scitranslmed.aat3005. PMID: 30918111
The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer’s disease.
Franzmeier N, Ren J, Damm A, Monté-Rubio G, Boada M, Ruiz A, Ramirez A, Jessen F, Düzel E, Rodríguez Gómez O, Benzinger T, Goate A, Karch CM, Fagan AM, McDade E, Buerger K, Levin J, Duering M, Dichgans M, Suárez-Calvet M, Haass C, Gordon BA, Lim YY, Masters CL, Janowitz D, Catak C, Wolfsgruber S, Wagner M, Milz E, Moreno-Grau S, Teipel S, Grothe MJ, Kilimann I, Rossor M, Fox N, Laske C, Chhatwal J, Falkai P, Perneczky R, Lee JH, Spottke A, Boecker H, Brosseron F, Fliessbach K, Heneka MT, Nestor P, Peters O, Fuentes M, Menne F, Priller J, Spruth EJ, Franke C, Schneider A, Westerteicher C, Speck O, Wiltfang J, Bartels C, Araque Caballero MÁ, Metzger C, Bittner D, Salloway S, Danek A, Hassenstab J, Yakushev I, Schofield PR, Morris JC, Bateman RJ, Ewers M. Mol Psychiatry. 2019 Mar 21:10.1038/s41380-019-0404-6. doi: 10.1038/s41380-019-0404-6. Online ahead of print. PMID: 30899092
Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease.
Vöglein J, Paumier K, Jucker M, Preische O, McDade E, Hassenstab J, Benzinger TL, Noble JM, Berman SB, Graff-Radford NR, Ghetti B, Farlow MR, Chhatwal J, Salloway S, Xiong C, Karch CM, Cairns N, Mori H, Schofield PR, Masters CL, Goate A, Buckles V, Fox N, Rossor M, Chrem P, Allegri R, Ringman JM, Höglinger G, Steiner H, Dieterich M, Haass C, Laske C, Morris JC, Bateman RJ, Danek A, Levin J; Dominantly Inherited Alzheimer Network. Brain. 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050. PMID: 30897203
Immunological signatures in frontotemporal lobar degeneration.
Sirkis DW, Bonham LW, Karch CM, Yokoyama JS. Curr Opin Neurol. 2019 Apr;32(2):272-278. doi: 10.1097/WCO.0000000000000665. PMID: 30672824