Article
Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau.
Science (New York, N.Y.) - 20 Nov 2020
Darwich Nabil F, Phan Jessica M, Kim Boram, Suh EunRan, Papatriantafyllou John D, Changolkar Lakshmi, Nguyen Aivi T, O'Rourke Caroline M, He Zhuohao, Porta Sílvia, Gibbons Garrett S, Luk Kelvin C, Papageorgiou Sokratis G, Grossman Murray, Massimo Lauren, Irwin David J, McMillan Corey T, Nasrallah Ilya M, Toro Camilo, Aguirre Geoffrey K, Van Deerlin Vivianna M, Lee Edward B
Abstract excerpt
Neurodegeneration in Alzheimer's disease (AD) is closely associated with the accumulation of pathologic tau aggregates in the form of neurofibrillary tangles. We found that a p.Asp395Gly mutation in VCP (valosin-containing protein) was associated with dementia characterized neuropathologically by neuronal vacuoles and neurofibrillary tangles. Moreover, VCP appeared to exhibit tau disaggregase activity in vitro,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.