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

Abstract:

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 important risk variants. Here, we leverage the strong haplotype-specific expression of MAPT exon 3 ...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1186/s13024-017-0224-6

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
Role:
Author
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Alzheimer's Society More from this funder
Alzheimer’s Research UK More from this funder
Publisher:
BioMed Central Publisher's website
Journal:
Molecular Neurodegeneration Journal website
Volume:
12
Issue:
1
Pages:
Article: 79
Publication date:
2017-10-30
Acceptance date:
2017-10-23
DOI:
ISSN:
1750-1326
Pubs id:
pubs:742356
URN:
uri:7d40339f-3cef-4a85-8a61-b29edfd5be3e
UUID:
uuid:7d40339f-3cef-4a85-8a61-b29edfd5be3e
Local pid:
pubs:742356
Paper number:
1

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