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Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau.
Darwich NF, Phan JM, Kim B, Suh E, Papatriantafyllou JD, Changolkar L, Nguyen AT, O'Rourke CM, He Z, Porta S, Gibbons GS, Luk KC, Papageorgiou SG, Grossman M, Massimo L, Irwin DJ, McMillan CT, Nasrallah IM, Toro C, Aguirre GK, Van Deerlin VM, Lee EB. Darwich NF, et al. Science. 2020 Nov 20;370(6519):eaay8826. doi: 10.1126/science.aay8826. Epub 2020 Oct 1. Science. 2020. PMID: 33004675 Free PMC article.
Novel VCP activator reverses multisystem proteinopathy nuclear proteostasis defects and enhances TDP-43 aggregate clearance.
Phan JM, Creekmore BC, Nguyen AT, Bershadskaya DD, Darwich NF, Lee EB. Phan JM, et al. Among authors: darwich nf. bioRxiv [Preprint]. 2023 Mar 15:2023.03.15.532082. doi: 10.1101/2023.03.15.532082. bioRxiv. 2023. Update in: J Clin Invest. 2024 May 23;134(14):e169039. doi: 10.1172/JCI169039 PMID: 36993559 Free PMC article. Updated. Preprint.