Article
Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue.
Acta neuropathologica communications - 11 Mar 2023
Tauber Christina V, Schwarz Sigrid C, Rösler Thomas W, Arzberger Thomas, Gentleman Steve, Windl Otto, Krumbiegel Mandy, Reis André, Ruf Viktoria C, Herms Jochen, Höglinger Günter U
Abstract excerpt
The MAPT gene, encoding the microtubule-associated protein tau on chromosome 17q21.31, is result of an inversion polymorphism, leading to two allelic variants (H1 and H2). Homozygosity for the more common haplotype H1 is associated with an increased risk for several tauopathies, but also for the synucleinopathy Parkinson's disease (PD). In the present study, we aimed to clarify whether the MAPT haplotype...
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