Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia

3 Mar 2003

Abstract excerpt

The majority of cases with frontotemporal dementia (FTD) have no tau deposition in the brain, yet mutations in the tau gene lead to a similar clinical phenotype with insoluble tau depositing in neuropathological lesions. We report two tau gene mutations at positions +19 and +29, in the intronic sequences immediately following the stem loop structure in exon 10, which segregate with FTD. Exon-trapping experiments...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alzheimer's disease research and treatments
Share to Amyotrophic Lateral Sclerosis Research
Share to Prion Diseases and Protein Misfolding

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 12615641
DOI: 10.1093/brain/awg090

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementiaPMID 12615641Read ↗

The Tau N279K Exon 10 Splicing Mutation Recapitulates Frontotemporal Dementia and Parkinsonism Linked to Chromosome 17 Tauopathy in a Mouse ModelSemantic proximity Read ↗

A new family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects.Semantic proximity Read ↗

FTDP‐17 mutations N279K and S305N in tau produce increased splicing of exon 10Semantic proximity Read ↗

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.Semantic proximity Read ↗

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.Semantic proximity Read ↗

Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule‐binding repeat domains as demonstrated by new specific monoclonal antibodiesSemantic proximity Read ↗

A novel mutation at position +11 in the intron following exon 10 of the tau gene in FTDP-17.Semantic proximity Read ↗

Tau exon 10 alternative splicing and tauopathiesSemantic proximity Read ↗

Tau gene mutations and neurodegeneration.Semantic proximity Read ↗

Tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17).Semantic proximity Read ↗

A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features.Semantic proximity Read ↗

Mutation in the tau gene in familial multiple system tauopathy with presenile dementiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.