2019
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
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
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
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
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
Early increase of CSF sTREM2 in Alzheimer’s disease is associated with tau related-neurodegeneration but not with amyloid-β pathology.
Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Schlepckow K, Araque Caballero MÁ, Franzmeier N, Capell A, Fellerer K, Nuscher B, Eren E, Levin J, Deming Y, Piccio L, Karch CM, Cruchaga C, Shaw LM, Trojanowski JQ, Weiner M, Ewers M, Haass C; Alzheimer’s Disease Neuroimaging Initiative. Mol Neurodegener. 2019 Jan 10;14(1):1. doi: 10.1186/s13024-018-0301-5. PMID: 30630532
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
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
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
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
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
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
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