Rush University Medical CenterUnited States
Children's Hospital of Philadelphia
University of Eastern FinlandFinland
Institute for Stroke and Dementia Research (ISD), University Hospital, LMU Munich, GermanyGermany
PAPER Gallagher E, Li S, Lee H, Xu H, Lee VMY, Mach RH, McManus MJ
Int. J. Mol. Sci. 2025 . International Journal of Molecular Sciences
PAPER Liou JJ, Li J, Berardinelli J, Jin H, Santini T, Noh J, Farhat N, Wu M, Aizenstein HJ, Mettenburg JM, Yong WH, Head E, Ikonomovic MD, Ibrahim TS, Kofler JK, Alzheimer Biomarker Consortium—Down Syndrome
J Neuropathol Exp Neurol. 2025 Mar 10; Epub 2025 Mar 10 PubMed.
University of Illinois ChicagoUnited States
MUTATIONS PSEN1 73653588_73653590 GRCh37/hg19 TCT--- 73186880_73186882 GRCh38/hg38 TCT--- Exon 6 Coding Unknown, although a variant resulting in S170 deletion (DNA change unknown) resulted in an increased Aβ42/Aβ40 ratio and a decreased Aβ37/42 ratio in cells. Unkn