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EN
The monoenergetic positron beamline "SPONSOR" at Rossendorf has been used to investigate the positron behaviour in a naturally grown Brasilian quartz, two synthetic quartz crystals of different origin, and synthetic silica glass. The measurements allow us to obtain the positron diffusion length of free positrons and Bloch para-positronium, if formed, in these materials. In addition, hydrothermal treatment of a synthetic quartz has been used to introduce hydrogen into the crystal up to a certain depth. The presence of hydrogen is found to influence the formation of para-positronium. The depth distribution of hydrogen has been measured independently by nuclear reaction analysis, and will be discussed in comparison with the results deduced from the positron studies.
EN
Mutations in the microtubule-associated tau gene are responsible for frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). A reduced ability of the mutated microtubule-associated tau protein to interact with microtubules causes microtubule destabilization leading to deleterious effects on axonal transport and the formation of tau filaments. Here, we describe a new mutation of the tau gene, a T C transition at position +11 of the intron following exon 10 (T C 3?E10 +11) in the family showing frontotemporal dementia with very early age of onset (the first decade of proband?s life). The TC 3?E10 +11 mutation caused a large increase in the proportion of transcripts containing exon 10 detected by exon-trapping analysis. Our study confirmed that the T C 3?E10 +11 mutation, as the other 5? splice site mutations of tau exon 10, modifies alternative splicing of exon 10.
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