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Article

Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.

Human molecular genetics - 15 Sept 2015

Sposito Teresa, Preza Elisavet, Mahoney Colin J, Setó-Salvia Núria, Ryan Natalie S, Morris Huw R, Arber Charles, Devine Michael J, Houlden Henry, Warner Thomas T, Bushell Trevor J, Zagnoni Michele, Kunath Tilo, Livesey Frederick J, Fox Nick C, Rossor Martin N, Hardy John, Wray Selina

Abstract excerpt

The alternative splicing of the tau gene, MAPT, generates six protein isoforms in the adult human central nervous system (CNS). Tau splicing is developmentally regulated and dysregulated in disease. Mutations in MAPT that alter tau splicing cause frontotemporal dementia (FTD) with tau pathology,...

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Identifiers

PMID: 26136155
DOI: 10.1093/hmg/ddv246
PMCID: PMC4550814

Genes

MAPT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-26136155-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Developmental regulation of tau splicing is disrupted in stem cell-derived neurons from frontotemporal dementia patients with the 10 + 16 splice-site mutation in MAPT.PMID 26136155Read ↗

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