An Alzheimer’s disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons

A missense variant in the tetratricopeptide repeat domain 3 (TTC3) gene (rs377155188, p.S1038C, NM_003316.4:c 0.3113C>G) was found to segregate with disease in a multigenerational family with late-onset Alzheimer’s disease. This variant was introduced into induced pluripotent stem cells (iPSCs) d...

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Veröffentlicht in:	Neurobiology of aging 2023-11, Vol.131, p.182-195
Hauptverfasser:	Cukier, Holly N., Duarte, Carolina L., Laverde-Paz, Mayra J., Simon, Shaina A., Van Booven, Derek J., Miyares, Amanda T., Whitehead, Patrice L., Hamilton-Nelson, Kara L., Adams, Larry D., Carney, Regina M., Cuccaro, Michael L., Vance, Jeffery M., Pericak-Vance, Margaret A., Griswold, Anthony J., Dykxhoorn, Derek M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Actin Cytoskeleton Alzheimer Disease - genetics Alzheimer’s disease (AD) Humans Induced Pluripotent Stem Cells Induced pluripotent stem cells (iPSCs) Late Onset Disorders Neurons Phosphatidylinositol 3-Kinases Prosencephalon Proto-Oncogene Proteins c-akt Signal Transduction - genetics Tetratricopeptide repeat domain 3 (TTC3) gene Ubiquitin-Protein Ligases
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