Enhanced activity of Alzheimer disease-associated variant of protein kinase Cα drives cognitive decline in a mouse model.
Nature Communications
Lordén, Gema G; Wozniak, Jacob M JM; Doré, Kim K; Dozier, Lara E LE; Cates-Gatto, Chelsea C; Patrick, Gentry N GN; Gonzalez, David J DJ; Roberts, Amanda J AJ; Tanzi, Rudolph E RE; Newton, Alexandra C AC
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: PRKCA: M489V; rs34406842
Gain-of-function mutations in protein kinase Cα (PKCα) may promote synaptic defects in Alzheimer's disease.
Science Signaling
Alfonso, Stephanie I SI; Callender, Julia A JA; Hooli, Basavaraj B; Antal, Corina E CE; Mullin, Kristina K; Sherman, Mathew A MA; Lesné, Sylvain E SE; Leitges, Michael M; Newton, Alexandra C AC; Tanzi, Rudolph E RE; Malinow, Roberto R
Publication Date: 2016-05-10
Variant appearance in text: PKCα: M489V; rs34406842