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Article

The novel MAPT mutation K298E: mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons.

Acta neuropathologica - 1 Feb 2014

Iovino Mariangela, Pfisterer Ulrich, Holton Janice L, Lashley Tammaryn, Swingler Robert J, Calo Laura, Treacy Rebecca, Revesz Tamas, Parmar Malin, Goedert Michel, Muqit Miratul M K, Spillantini Maria Grazia

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction. About 20-30% of cases are inherited in a dominant manner. Mutations in the microtubule-associated protein tau gene (MAPT) cause frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17T). Here we report a novel...

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Identifiers

PMID: 24292008
DOI: 10.1007/s00401-013-1219-1
PMCID: PMC3895181

Genes

MAPT

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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