2019

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. SILK studies – capturing the turnover of proteins linked to neurodegenerative diseases. Nat Rev Neurol. 2019 Jun 20;. doi: 10.1038/s41582-019-0222-0. [Epub ahead of print] Review. PubMed PMID: 31222062.

Sirkis DW, Geier EG, Bonham LW, Karch CM, Yokoyama JS. (2019). Recent Advances in the Genetics of Frontotemporal Dementia. Current Genetic Medicine Reports. https://doi.org/10.1007/s40142-019-0160-6.

Sirkis DW, Bonham LW, Karch CM, Yokoyama JS. Immunological signatures in frontotemporal lobar degeneration. Curr Opin Neurol. 2019 Apr;32(2):272-278. doi: 10.1097/WCO.0000000000000665. PubMed PMID: 30672824.

*Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JF, Dube U, Farias FG, Bradley J, Cantoni C, Benitez B, Budde JP, Ibanez L, Fernandez MV, Blennow K, Nellgard B, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suarez-Cavet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Karch CM*, Piccio L*, Cruchaga C*. The MS4A gene cluster is a key regulator of soluble TREM2 and Alzheimer disease risk. bioRxiv. 2018. doi: https://doi.org/10.1101/352179. Science Translational Medicine. In Press. *Corresponding author.

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. The BDNFVal66Met SNP modulates the association between beta-amyloid and hippocampal disconnection in Alzheimer’s disease. Mol Psychiatry. 2019 Mar 21;. doi: 10.1038/s41380-019-0404-6. [Epub ahead of print] PubMed PMID: 30899092; NIHMSID:NIHMS1521850.

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. Clinical, pathophysiological and genetic features of motor symptoms in autosomal dominant Alzheimer’s disease. Brain. 2019 May 1;142(5):1429-1440. doi: 10.1093/brain/awz050. PubMed PMID: 30897203.

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. A farnesyltransferase inhibitor activates lysosomes and reduces tau pathology in mice with tauopathy. Sci Transl Med. 2019 Mar 27;11(485). doi: 10.1126/scitranslmed.aat3005. PubMed PMID: 30918111.

Preische O, Schultz SA, Apel A, Kuhle J, Kaeser SA, Barro C, Gräber S, Kuder-Buletta E, LaFougere C, Laske C, Vöglein J, Levin J, Masters CL, Martins R, Schofield PR, Rossor MN, Graff-Radford NR, Salloway S, Ghetti B, Ringman JM, Noble JM, Chhatwal J, Goate AM, Benzinger TLS, Morris JC, Bateman RJ, Wang G, Fagan AM, McDade EM, Gordon BA, Jucker M, DIAN. Serum neurofilament dynamics predicts neurodegeneration and clinical progression in presymptomatic Alzheimer’s disease. Nat Med. 2019 Feb;25(2):277-283. doi: 10.1038/s41591-018-0304-3. Epub 2019 Jan 21. PubMed PMID: 30664784; PubMed Central PMCID: PMC6367005.

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*. Dissecting the genetic relationship between cardiovascular risk factors and Alzheimer’s disease. Acta Neuropathol. 2019 Feb;137(2):209-226. doi: 10.1007/s00401-018-1928-6. Epub 2018 Nov 9. PubMed PMID: 30413934; PubMed Central PMCID: PMC6358498. *Corresponding author.

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. Early increase of CSF sTREM2 in Alzheimer’s disease is associated with tau related-neurodegeneration but not with amyloid-β pathology. Mol Neurodegener. 2019 Jan 10;14(1):1. doi: 10.1186/s13024-018-0301-5. PubMed PMID: 30630532; PubMed Central PMCID: PMC6327425.

2018

*Tavana J, Rosene M, Jensen, Ridge PG, Kauwe JSK, Karch CM. RAB10: an Alzheimer’s disease resilience locus and potential drug target. Clin Interv Aging. 2019;14:73-79. doi: 10.2147/CIA.S159148. eCollection 2019. Review. PubMed PMID: 30643396; PubMed Central PMCID: PMC6312396.

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. Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP. Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z.

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. CSF progranulin increases in the course of Alzheimer’s disease and is associated with sTREM2, neurodegeneration and cognitive decline. EMBO Mol Med. 2018 Dec;10(12). pii: e9712. doi: 10.15252/emmm.201809712.

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). The relevance of cerebrospinal fluid α-synuclein levels to sporadic and familial Alzheimer’s disease. Acta Neuropathol Commun. 2018 Nov 26;6(1):130. doi: 10.1186/s40478-018-0624-z.

Araque Caballero MA, Suárez-Calvet M, Duering M, Franzmeier N, Benzinger TLS, 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 AM, Yakushev I, Hassenstab J, Schofield P, Haass C, Ewers M. White matter diffusion alterations precede symptom onset in autosomal dominant Alzheimer’s disease. Brain. 2018 Oct 1;141(10):3065-3080. PMCID: PMC6158739.

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). Protein network analysis reveals selectively vulnerable regions and biological processes in FTD. Neurol Genet. 2018 Oct 1;4(5):e266. doi: 10.1212/NXG.0000000000000266. eCollection 2018 Oct.

Joseph-Mathurin N, Su Y, Blazey TM, Jasielec M, Vlassenko A, Friedrichsen K, Gordon BA, Hornbeck RC, Cash L, Ances BM, Raichle ME, Brickman AM, Buckles V, Cairns NJ, Cruchaga C, Fagan AM, Goate A, Jack CR, Klunk W, Koeppe RA, Marcus DS, Mayeux R, McDade E, Karch C, Ringman J, Saykin AJ, Thompson PM, Xiong C, Morris JC, Bateman RJ, Benzinger TLS, DIAN. Utility of perfusion PET measures to assess neuronal injury in Alzheimer’s disease. Alzheimer’s & Dement (Amst). 2018 Sep 27;10:669-677. PMCID: PMC6215983

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. Regionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex. Sci Rep. 2018 Sep 6;8(1):13373. doi: 10.1038/s41598-018-31075-4.

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. Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network. Alzheimers Res Ther. 2018 Jul 25;10(1):69. doi: 10.1186/s13195-018-0400-0. *Corresponding author

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. Discovery and validation of autosomal dominant Alzheimer’s disease mutations. Alzheimers Res Ther. 2018 Jul 18;10(1):67. doi: 10.1186/s13195-018-0392-9.

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. Genetic variants associated with Alzheimer’s disease confer different cerebral cortex cell-type population structure. Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4.

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).  CXCR4 involvement in neurodegenerative diseases. Transl Psychiatry. 2018 Apr 11;8(1):73. doi: 10.1038/s41398-017-0049-7. *Equal contribution.

Karch CM*, Wen N, Fan CC, Yokoyama JS, Kouri N, Ross OA, Höglinger G, Müller U, Ferrari R, Hardy J, Schellenberg GD, IFGC, PSP Genetics Consortium, IPDGC, IGAP, Momeni P, Hess CP, Miller BL, Sharma M, Van Deerlin V, Smeland OB, Andreassen OL, Dale AM, Desikan RS*. Selective Genetic Overlap Between Amyotrophic Lateral Sclerosis and Diseases of the Frontotemporal Dementia Spectrum. JAMA Neurol. 2018 Jul 1;75(7):860-875. doi:10.1001/jamaneurol.2018.0372. *Corresponding author.

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*. Tau Kinetics in Neurons and the Human Central Nervous System. Neuron. 2018 Mar 21;97(6):1284-1298.e7. doi: 10.1016/j.neuron.2018.02.015. *Corresponding author.

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. Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies. PLoS Med. 2018 Jan 9;15(1):e1002487. doi: 10.1371/journal.pmed.1002487. eCollection 2018 Jan.

Tan CH, Fan CC, Mormino EC, Sugrue LP, Broce IJ, Hess CP, Dillon WP, Bonham LW, Yokoyama JS, Karch CM, Brewer JB, Rabinovici GD, Miller BL, Schellenberg GD, Kauppi K, Feldman HA, Holland D, McEvoy LK, Hyman BT, Bennett DA, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative. Polygenic hazard score: an enrichment marker for Alzheimer’s associated amyloid and tau deposition. Acta Neuropathol. 2018 Jan;135(1):85-93. doi: 10.1007/s00401-017-1789-4. Epub 2017 Nov 24.

2017

Ridge PG*, Karch CM*, Hsu S, Arano I, Teerlink CC, Ebbert MTW, Gonzalez Murcia JD, Farnham JM, Damato AR, Allen M, Wang X, Harari O, Fernandez VM, Guerreiro R, Bras J, Hardy J, Munger R, Norton M, Sassi C, Singleton A, Younkin SG, Dickson DW, Golde TE, Price ND, Ertekin-Taner N, Cruchaga C, Goate AM, Corcoran C, Tschanz J, Cannon-Albright LA, Kauwe JSK; Alzheimer’s Disease Neuroimaging Initiative. Linkage, whole genome sequence, and biological data implicate variants in RAB10 in Alzheimer’s disease resilience. Genome Med. 2017 Nov 29;9(1):100. doi: 10.1186/s13073-017-0486-1. *Equal contribution.

Wang C, Ward ME, Chen R, Liu K, Tracy TE, Chen X, Xie M, Sohn PD, Ludwig C, Meyer-Franke A, Karch CM, Ding S, Gan L. Scalable Production of iPSC-Derived Human Neurons to Identify Tau-Lowering Compounds by High-Content Screening. Stem Cell Reports. 2017 Oct 10;9(4):1221-1233. doi: 10.1016/j.stemcr.2017.08.019. Epub 2017 Sep 28.

Tcw J, Wang M, Pimenova AA, Bowles KR, Hartley BJ, Lacin E, Machlovi SI, Abdelaal R, Karch CM, Phatnani H, Slesinger PA, Zhang B, Goate AM, Brennand KJ. An Efficient Platform for Astrocyte Differentiation from Human Induced Pluripotent Stem Cells. Stem Cell Reports. 2017 Aug 8;9(2):600-614. doi: 10.1016/j.stemcr.2017.06.018. Epub 2017 Jul 27.

Desikan RS, Fan CC, Wang Y, Schork AJ, Cabral HJ, Cupples LA, Thompson WK, Besser L, Kukull WA, Holland D, Chen CH, Brewer JB, Karow DS, Kauppi K, Witoelar A, Karch CM, Bonham LW, Yokoyama JS, Rosen HJ, Miller BL, Dillon WP, Wilson DM, Hess CP, Pericak-Vance M, Haines JL, Farrer LA, Mayeux R, Hardy J, Goate AM, Hyman BT, Schellenberg GD, McEvoy LK, Andreassen OA, Dale AM. Genetic assessment of age-associated Alzheimer disease risk: Development and validation of a polygenic hazard score. PLoS Med. 2017 Mar 21;14(3):e1002258. doi: 10.1371/journal.pmed.1002258. eCollection 2017 Mar.

Yokoyama JS*, Karch CM*, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J; International FTD-Genomics Consortium (IFGC), Momeni P, Sugrue LP, Hess CP, James Barkovich A, Boxer AL, Seeley WW, Rabinovici GD, Rosen HJ, Miller BL, Schmansky NJ, Fischl B, Hyman BT, Dickson DW, Schellenberg GD, Andreassen OA, Dale AM, Desikan RS. Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7. *Equal contribution.

Kober DL, Alexander-Brett JM, Karch CM, Cruchaga C, Colonna M, Holtzman MJ, Brett TJ. Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms. Elife. 2016 Dec 20;5. pii: e20391. doi: 10.7554/eLife.20391.

Ferrari R, Wang Y, Vandrovcova J, Guelfi S, Witeolar A, Karch CM, Schork AJ, Fan CC, Brewer JB; International FTD-Genomics Consortium (IFGC),.; International Parkinson’s Disease Genomics Consortium (IPDGC),.; International Genomics of Alzheimer’s Project (IGAP),., Momeni P, Schellenberg GD, Dillon WP, Sugrue LP, Hess CP, Yokoyama JS, Bonham LW, Rabinovici GD, Miller BL, Andreassen OA, Dale AM, Hardy J, Desikan RS. Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer’s and Parkinson’s diseases. J Neurol Neurosurg Psychiatry. 2017 Feb;88(2):152-164. doi: 10.1136/jnnp-2016-314411. Epub 2016 Nov 29.

2016

Yokoyama JS, Wang Y, Schork AJ, Thompson WK, Karch CM, Cruchaga C, McEvoy LK, Witoelar A, Chen CH, Holland D, Brewer JB, Franke A, Dillon WP, Wilson DM, Mukherjee P, Hess CP, Miller Z, Bonham LW, Shen J, Rabinovici GD, Rosen HJ, Miller BL, Hyman BT, Schellenberg GD, Karlsen TH, Andreassen OA, Dale AM, Desikan RS; Alzheimer’s Disease Neuroimaging Initiative. Association Between Genetic Traits for Immune-Mediated Diseases and Alzheimer Disease. JAMA Neurol. 2016 Jun 1;73(6):691-7. doi: 10.1001/jamaneurol.2016.0150.

Wakle-Prabagaran M, Lorca RA, Ma X, Stamnes SJ, Amazu C, Hsiao JJ, Karch CM, Hyrc KL, Wright ME, England SK. BKCa channel regulates calcium oscillations induced by alpha-2-macroglobulin in human myometrial smooth muscle cells. Proc Natl Acad Sci U S A. 2016 Apr 19;113(16):E2335-44. doi: 10.1073/pnas.1516863113. Epub 2016 Apr 4.

Karch CM*, Ezerskiy LA, Bertelsen S, ADGC, Goate AM. Alzheimer’s Disease Risk Polymorphisms Regulate Gene Expression in the ZCWPW1 and the CELF1 Loci. PLoS One. Feb 26;11(2):e0148717. doi: 10.1371/journal.pone.0148717. eCollection 2016. *Corresponding author.

Karch CM, Ezerskiy L, Redaelli V, Giovagnoli AR, Tiraboschi P, Pelliccioni G, Pelliccioni P, Kapetis D, D’Amato I, Piccoli E, Ferretti MG, Tagliavini F, Rossi G. Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features. Neurobiol Aging. 2016 Feb;38:215.e1-215.e12. doi: 10.1016/j.neurobiolaging.2015.10.029.

 2015

Karch CM, Goate AM. Alzheimer’s Disease Risk Genes and Mechanisms of Disease Pathogenesis. Biol Psychiatry. 2015 Jan 1;77(1):43-51. doi: 10.1016/j.biopsych.2014.05.006. Review.

2014

Kauwe JS, Bailey MH, Ridge PG, Perry R, Wadsworth ME, Hoyt KL, Staley LA, Karch CM, Harari O, Cruchaga C, Ainscough BJ, Bales K, Pickering EH, Bertelsen S; Alzheimer’s Disease Neuroimaging Initiative, Fagan AM, Holtzman DM, Morris JC, Goate AM.Genome-Wide Association Study of CSF Levels of 59 Alzheimer’s Disease Candidate Proteins: Significant Associations with Proteins Involved in Amyloid Processing and Inflammation. PLoS Genet. 2014 Oct 23;10(10):e1004758. doi: 10.1371/journal.pgen.1004758. eCollection 2014 Oct.

Karch CM, Cruchaga C, Goate AM. Alzheimer’s disease genetics: from the bench to the clinic. Neuron. 2014 Jul 2;83(1):11-26. doi: 10.1016/j.neuron.2014.05.041. Review.

Jin SC, Benitez BA, Karch CM, Cooper B, Skorupa T, Carrell D, Norton JB, Hsu S, Harari O, Cai Y, Bertelsen S, Goate AM, Cruchaga C. Coding variants in TREM2 increase risk for Alzheimer’s disease. Hum Mol Genet. 2014 Nov 1;23(21):5838-46. doi: 10.1093/hmg/ddu277. Epub 2014 Jun 4.

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M; UK Brain Expression Consortium, Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K; Alzheimer’s Research UK Consortium, Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ER, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JS, Goate AM. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer’s disease. Nature. 2014 Jan 23;505(7484):550-4. doi: 10.1038/nature12825. Epub 2013 Dec 11.

2013

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA; Alzheimer’s Disease Neuroimaging Initiative; Genetic and Environmental Risk for Alzheimer’s Disease Consortium GERAD, Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C. The PSEN1, p.E318G variant increases the risk of Alzheimer’s disease in APOE-ε4 carriers. PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22.

Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM. Novel progranulin variants do not disrupt progranulin secretion and cleavage. Neurobiol Aging. 2013 Nov;34(11):2538-40. doi: 10.1016/j.neurobiolaging.2013.05.004. Epub 2013 Jun 4.

Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC; GERAD Consortium; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC), Goate AM. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4.

Karch CM, Jeng AT, Goate AM. Calcium phosphatase calcineurin influences tau metabolism. Neurobiol Aging. 2013 Feb;34(2):374-86. doi: 10.1016/j.neurobiolaging.2012.05.003. Epub 2012 Jun 6.

2012

Karch CM, Jeng AT, Nowotny P, Cady J, Cruchaga C, Goate AM. Expression of novel Alzheimer’s disease risk genes in control and Alzheimer’s disease brains. PLoS One. 2012;7(11):e50976. doi: 10.1371/journal.pone.0050976. Epub 2012 Nov 30.

Karch CM, Jeng AT, Goate AM. Extracellular Tau levels are influenced by variability in Tau that is associated with tauopathies. J Biol Chem. 2012 Dec 14;287(51):42751-62. doi: 10.1074/jbc.M112.380642. Epub 2012 Oct 2.

2011

Kauwe JS, Cruchaga C, Karch CM, Sadler B, Lee M, Mayo K, Latu W, Su’a M, Fagan AM, Holtzman DM, Morris JC; Alzheimer’s Disease Neuroimaging Initiative, Goate AM. Fine mapping of genetic variants in BIN1, CLU, CR1 and PICALM for association with cerebrospinal fluid biomarkers for Alzheimer’s disease. PLoS One. 2011 Feb 9;6(2):e15918. doi: 10.1371/journal.pone.0015918.

2010

Karch CM, Borchelt DR. Aggregation modulating elements in mutant human superoxide dismutase 1. Arch Biochem Biophys. 2010 Nov 15;503(2):175-82. doi: 10.1016/j.abb.2010.07.027. Epub 2010 Aug 2.

Karch CM, Borchelt DR. An examination of alpha B-crystallin as a modifier of SOD1 aggregate pathology and toxicity in models of familial amyotrophic lateral sclerosis. J Neurochem. 2010 Jun;113(5):1092-100. doi: 10.1111/j.1471-4159.2010.06572.x. Epub 2010 Jan 7.

2009

Karch CM, Prudencio M, Winkler DD, Hart PJ, Borchelt DR. Role of mutant SOD1 disulfide oxidation and aggregation in the pathogenesis of familial ALS. Proc Natl Acad Sci U S A. 2009 May 12;106(19):7774-9. doi: 10.1073/pnas.0902505106. Epub 2009 Apr 30.

Seetharaman SV, Prudencio M, Karch C, Holloway SP, Borchelt DR, Hart PJ. Immature copper-zinc superoxide dismutase and familial amyotrophic lateral sclerosis. Exp Biol Med (Maywood). 2009 Oct;234(10):1140-54. doi: 10.3181/0903-MR-104. Epub 2009 Jul 13. Review.

2008

Karch CM, Borchelt DR. A limited role for disulfide cross-linking in the aggregation of mutant SOD1 linked to familial amyotrophic lateral sclerosis. J Biol Chem. 2008 May 16;283(20):13528-37. doi: 10.1074/jbc.M800564200. Epub 2008 Mar 3.

Xu G, Karch C, Li N, Lin N, Fromholt D, Gonzales V, Borchelt DR. Receptor-associated protein (RAP) plays a central role in modulating Abeta deposition in APP/PS1 transgenic mice. PLoS One. 2008 Sep 8;3(9):e3159. doi: 10.1371/journal.pone.0003159.

2005

Wang J, Xu G, Li H, Gonzales V, Fromholt D, Karch C, Copeland NG, Jenkins NA, Borchelt DR. Somatodendritic accumulation of misfolded SOD1-L126Z in motor neurons mediates degeneration: alphaB-crystallin modulates aggregation. Hum Mol Genet. 2005 Aug 15;14(16):2335-47. Epub 2005 Jul 6.