2013
Calcium phosphatase calcineurin influences tau metabolism.
Karch CM, Jeng AT, Goate AM. Neurobiol Aging. 2013 Feb;34(2):374-86. doi: 10.1016/j.neurobiolaging.2012.05.003. Epub 2012 Jun 6. PMID: 2267685
GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer’s disease.
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. Neuron. 2013 Apr 24;78(2):256-68. doi: 10.1016/j.neuron.2013.02.026. Epub 2013 Apr 4. PMID: 23562540
Novel progranulin variants do not disrupt progranulin secretion and cleavage.
Karch CM, Jeng AT, Skorupa T, Cruchaga C, Goate AM. Neurobiol Aging. 2013 Nov;34(11):2538-40. doi: 10.1016/j.neurobiolaging.2013.05.004. Epub 2013 Jun 4. PMID: 23759146
The PSEN1, p.E318G variant increases the risk of Alzheimer’s disease in APOE-ε4 carriers.
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. PLoS Genet. 2013;9(8):e1003685. doi: 10.1371/journal.pgen.1003685. Epub 2013 Aug 22. PMID: 23990795