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Article

Haplotype-specific expression of exon 10 at the human MAPT locus.

Human molecular genetics - 15 Dec 2006

Caffrey Tara M, Joachim Catharine, Paracchini Silvia, Esiri Margaret M, Wade-Martins Richard

Abstract excerpt

Neurofibrillary tangles composed of exon 10+ microtubule associated protein tau (MAPT) deposits are the characteristic feature of the neurodegenerative diseases progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). PSP, CBD and more recently Alzheimer's disease and Parkinson's disease, are associated with the MAPT H1 haplotype, but the relationship between genotype and disease remains unclear....

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Identifiers

PMID: 17085483
DOI: 10.1093/hmg/ddl429

Genes

MAPT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Haplotype-specific expression of exon 10 at the human MAPT locus.PMID 17085483Read ↗

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The Role of MAPT Haplotype H2 and Isoform 1N/4R in Parkinsonism of Older Adults.Semantic proximity Read ↗

Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue.Semantic proximity Read ↗

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.Semantic proximity Read ↗

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies.Semantic proximity Read ↗

MAPT haplotype-associated transcriptomic changes in progressive supranuclear palsySemantic proximity Read ↗

Genetic Architecture of MAPT Gene Region in Parkinson Disease SubtypesSemantic proximity Read ↗

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.Semantic proximity Read ↗

Disentangling the role of the tau gene locus in sporadic tauopathies.Semantic proximity Read ↗

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The role of MAPT sequence variation in mechanisms of disease susceptibility.Semantic proximity Read ↗

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