Article
Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport.
Human molecular genetics - 1 May 2019
Butler Victoria J, Salazar Dominique A, Soriano-Castell David, Alves-Ferreira Miguel, Dennissen Frank J A, Vohra Mihir, Oses-Prieto Juan A, Li Kathy H, Wang Austin L, Jing Beibei, Li Biao, Groisman Alex, Gutierrez Edgar, Mooney Sean, Burlingame Alma L, Ashrafi Kaveh, Mandelkow Eva-Maria, Encalada Sandra E, Kao Aimee W
Abstract excerpt
Mutations in the microtubule-associated protein tau (MAPT) underlie multiple neurodegenerative disorders, yet the pathophysiological mechanisms are unclear. A novel variant in MAPT resulting in an alanine to threonine substitution at position 152 (A152T tau) has recently been described as a significant risk factor for both frontotemporal lobar degeneration and Alzheimer's disease. Here we use complementary...
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