2018
CSF progranulin increases in the course of Alzheimer’s disease and is associated with sTREM2, neurodegeneration and cognitive decline.
Suárez-Calvet M, Capell A, Araque Caballero MÁ, Morenas-Rodríguez E, Fellerer K, Franzmeier N, Kleinberger G, Eren E, Deming Y, Piccio L, Karch CM, Cruchaga C, Paumier K, Bateman RJ, Fagan AM, Morris JC, Levin J, Danek A, Jucker M, Masters CL, Rossor MN, Ringman JM, Shaw LM, Trojanowski JQ, Weiner M, Ewers M, Haass C; Dominantly Inherited Alzheimer Network; Alzheimer's Disease Neuroimaging Initiative. EMBO Mol Med. 2018 Dec;10(12):e9712. doi: 10.15252/emmm.201809712. PMID: 30482868
CXCR4 involvement in neurodegenerative diseases.
Bonham LW, Karch CM, Fan CC, Tan C, Geier EG, Wang Y, Wen N, Broce IJ, Li Y, Barkovich MJ, Ferrari R, Hardy J, Momeni P, Höglinger G, Müller U, Hess CP, Sugrue LP, Dillon WP, Schellenberg GD, Miller BL, Andreassen OA, Dale AM, Barkovich AJ, Yokoyama JS, Desikan RS; International FTD-Genomics Consortium (IFGC); International Parkinson’s Disease Genetics Consortium (IPDGC); International Genomics of Alzheimer’s Project (IGAP). Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7. PMID: 29636460
Discovery and validation of autosomal dominant Alzheimer’s disease mutations.
Hsu S, Gordon BA, Hornbeck R, Norton JB, Levitch D, Louden A, Ziegemeier E, Laforce R Jr, Chhatwal J, Day GS, McDade E, Morris JC, Fagan AM, Benzinger TLS, Goate AM, Cruchaga C, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Karch CM. Alzheimers Res Ther. 2018 Jul 18;10(1):67. doi: 10.1186/s13195-018-0392-9. PMID: 30021643
Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer’s disease.
Broce IJ, Tan CH, Fan CC, Jansen I, Savage JE, Witoelar A, Wen N, Hess CP, Dillon WP, Glastonbury CM, Glymour M, Yokoyama JS, Elahi FM, Rabinovici GD, Miller BL, Mormino EC, Sperling RA, Bennett DA, McEvoy LK, Brewer JB, Feldman HH, Hyman BT, Pericak-Vance M, Haines JL, Farrer LA, Mayeux R, Schellenberg GD, Yaffe K, Sugrue LP, Dale AM, Posthuma D, Andreassen OA, Karch CM, Desikan RS. Acta Neuropathol. 2019 Feb;137(2):209-226. doi: 10.1007/s00401-018-1928-6. Epub 2018 Nov 9. PMID: 30413934
Genetic variants associated with Alzheimer’s disease confer different cerebral cortex cell-type population structure.
Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN), Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O. Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4. PMID: 29880032
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM, Hernández D, Wang JC, Marsh J, Hewitt AW, Hsu S, Norton J, Levitch D, Donahue T, Sigurdson W, Ghetti B, Farlow M, Chhatwal J, Berman S, Cruchaga C, Morris JC, Bateman RJ; Dominantly Inherited Alzheimer Network (DIAN), Pébay A, Goate AM. Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0. PMID: 30045758
Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.
Broce I, Karch CM, Wen N, Fan CC, Wang Y, Tan CH, Kouri N, Ross OA, Höglinger GU, Muller U, Hardy J; International FTD-Genomics Consortium, Momeni P, Hess CP, Dillon WP, Miller ZA, Bonham LW, Rabinovici GD, Rosen HJ, Schellenberg GD, Franke A, Karlsen TH, Veldink JH, Ferrari R, Yokoyama JS, Miller BL, Andreassen OA, Dale AM, Desikan RS, Sugrue LP. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan. PMID: 29315334
Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); International FTD-Genomics Consortium (IFGC), Harari O, Cruchaga C, Karch CM. Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z. PMID: 30546007
Protein network analysis reveals selectively vulnerable regions and biological processes in FTD.
Bonham LW, Steele NZR, Karch CM, Manzoni C, Geier EG, Wen N, Ofori-Kuragu A, Momeni P, Hardy J, Miller ZA, Hess CP, Lewis P, Miller BL, Seeley WW, Baranzini SE, Desikan RS, Ferrari R, Yokoyama JS; International FTD-Genomics Consortium (IFGC). Neurol Genet. 2018 Oct 1;4(5):e266. doi: 10.1212/NXG.0000000000000266. eCollection 2018 Oct. PMID: 30283816
RAB10: an Alzheimer’s disease resilience locus and potential drug target.
Tavana JP, Rosene M, Jensen NO, Ridge PG, Kauwe JS, Karch CM. Clin Interv Aging. 2018 Dec 28;14:73-79. doi: 10.2147/CIA.S159148. eCollection 2019. PMID: 30643396
Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex.
Li Y, Barkovich MJ, Karch CM, Nillo RM, Fan CC, Broce IJ, Tan CH, Cuneo D, Hess CP, Dillon WP, Glenn OA, Glastonbury CM, Olney N, Yokoyama JS, Bonham LW, Miller B, Kao A, Schmansky N, Fischl B, Andreassen OA, Jernigan T, Dale A, Barkovich AJ, Desikan RS, Sugrue LP. Sci Rep. 2018 Sep 6;8(1):13373. doi: 10.1038/s41598-018-31075-4. PMID: 30190613
Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum
Karch CM, Wen N, Fan CC, Yokoyama JS, Kouri N, Ross OA, Höglinger G, Müller U, Ferrari R, Hardy J, Schellenberg GD, Sleiman PM, Momeni P, Hess CP, Miller BL, Sharma M, Van Deerlin V, Smeland OB, Andreassen OA, Dale AM, Desikan RS; International Frontotemporal Dementia (FTD)–Genomics Consortium, International
Tau Kinetics in Neurons and the Human Central Nervous System.
Sato C, Barthélemy NR, Mawuenyega KG, Patterson BW, Gordon BA, Jockel-Balsarotti J, Sullivan M, Crisp MJ, Kasten T, Kirmess KM, Kanaan NM, Yarasheski KE, Baker-Nigh A, Benzinger TLS, Miller TM, Karch CM, Bateman RJ. Neuron. 2018 Mar 21;97(6):1284-1298.e7. doi: 10.1016/j.neuron.2018.02.015. PMID: 29566794
The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer’s disease.
Twohig D, Rodriguez-Vieitez E, Sando SB, Berge G, Lauridsen C, Møller I, Grøntvedt GR, Bråthen G, Patra K, Bu G, Benzinger TLS, Karch CM, Fagan A, Morris JC, Bateman RJ, Nordberg A, White LR, Nielsen HM; Dominantly Inherited Alzheimer Network (DIAN). Acta Neuropathol Commun. 2018 Nov 26;6(1):130. doi: 10.1186/s40478-018-0624-z. PMID: 30477568
Utility of perfusion PET measures to assess neuronal injury in Alzheimer’s disease.
Joseph-Mathurin N, Su Y, Blazey TM, Jasielec M, Vlassenko A, Friedrichsen K, Gordon BA, Hornbeck RC, Cash L, Ances BM, Veale T, Cash DM, Brickman AM, Buckles V, Cairns NJ, Cruchaga C, Goate A, Jack CR Jr, Karch C, Klunk W, Koeppe RA, Marcus DS, Mayeux R, McDade E, Noble JM, Ringman J, Saykin AJ, Thompson PM, Xiong C, Morris JC, Bateman RJ, Benzinger TLS; Dominantly Inherited Alzheimer Network. Alzheimers Dement (Amst). 2018 Sep 27;10:669-677. doi: 10.1016/j.dadm.2018.08.012. eCollection 2018. PMID: 30417072
White matter diffusion alterations precede symptom onset in autosomal dominant Alzheimer’s disease.
Araque Caballero MÁ, Suárez-Calvet M, Duering M, Franzmeier N, Benzinger T, Fagan AM, Bateman RJ, Jack CR, Levin J, Dichgans M, Jucker M, Karch C, Masters CL, Morris JC, Weiner M, Rossor M, Fox NC, Lee JH, Salloway S, Danek A, Goate A, Yakushev I, Hassenstab J, Schofield PR, Haass C, Ewers M. Brain. 2018 Oct 1;141(10):3065-3080. doi: 10.1093/brain/awy229. PMID: 30239611