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Article

Haplotype-specific MAPT exon 3 expression regulated by common intronic polymorphisms associated with Parkinsonian disorders.

Molecular neurodegeneration - 30 Oct 2017

Lai Mang Ching, Bechy Anne-Laure, Denk Franziska, Collins Emma, Gavriliouk Maria, Zaugg Judith B, Ryan Brent J, Wade-Martins Richard, Caffrey Tara M

Abstract excerpt

BACKGROUND: Genome wide association studies have identified microtubule associated protein tau (MAPT) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson's disease, progressive supranuclear palsy and corticobasal degeneration. The MAPT risk variants fall within a large 1.8 Mb region of high linkage disequilibrium, making it difficult to discern the functionally...

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Identifiers

PMID: 29084565
DOI: 10.1186/s13024-017-0224-6
PMCID: PMC5663040

Genes

MAPT

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