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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Pick bodies in a family with presenilin-1 Alzheimer's disease.

Presenilin-1 (PS-1) mutations can cause Pick's disease without evidence of Alzheimer's disease (AD). We describe a family with a PS-1 M146L mutation and both Pick bodies and AD. Sarkosyl-insoluble hyperphosphorylated tau showed three bands consistent with AD, although dephosphorylation showed primarily three-repeat isoforms. M146L mutant PS-1 may predispose to both Pick's disease and AD by affecting multiple intracellular pathways involving tau phosphorylation and amyloid metabolism.[1]

References

  1. Pick bodies in a family with presenilin-1 Alzheimer's disease. Halliday, G.M., Song, Y.J., Lepar, G., Brooks, W.S., Kwok, J.B., Kersaitis, C., Gregory, G., Shepherd, C.E., Rahimi, F., Schofield, P.R., Kril, J.J. Ann. Neurol. (2005) [Pubmed]
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