Affiliation: Washington University School of Medicine
Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, et al
. 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;8:265 pubmed publisher
..Here, we demonstrate that MAPT p.R406W is sufficient to induce changes in GABA-mediated signaling and synaptic function, which may contribute to the pathogenesis of FTLD-tau and other primary tauopathies. ..
Piccio L, Deming Y, Del Aguila J, Ghezzi L, Holtzman D, Fagan A, et al
. Cerebrospinal fluid soluble TREM2 is higher in Alzheimer disease and associated with mutation status. Acta Neuropathol. 2016;131:925-33 pubmed publisher
..Furthermore, SNPs involved in pathways related to virus cellular entry and vesicular trafficking were overrepresented, suggesting that CSF sTREM2 levels could be an informative phenotype for AD. ..
Ibáñez L, Dube U, Saef B, Budde J, Black K, Medvedeva A, et al
. Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels. BMC Neurol. 2017;17:198 pubmed publisher
..In our dataset we found a marginal association of the PRS with CSF t-tau but not with ?-synuclein CSF levels, suggesting that the genetic architecture for the CSF biomarker levels is different from that of PD risk. ..