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Article

Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy.

Neurobiology of aging - 1 Jun 2014

Ferrari Raffaele, Ryten Mina, Simone Roberto, Trabzuni Daniah, Nicolaou Nayia, Nicolaou Naiya, Hondhamuni Geshanthi, Ramasamy Adaikalavan, Vandrovcova Jana, Weale Michael E, Lees Andrew J, Momeni Parastoo, Hardy John, de Silva Rohan

Abstract excerpt

Progressive supranuclear palsy is a rare parkinsonian disorder with characteristic neurofibrillary pathology consisting of hyperphosphorylated tau protein. Common variation defining the microtubule associated protein tau gene (MAPT) H1 haplotype strongly contributes to disease risk. A recent genome-wide association study (GWAS) revealed 3 novel risk loci on chromosomes 1, 2, and 3 that primarily implicate STX6,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24503276
DOI: 10.1016/j.neurobiolaging.2014.01.010
PMCID: PMC4104112

Genes

STX6
MOBP
MAPT

Provenance

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