Thilo Herzfeld

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X-chromosomal dystonia parkinsonism syndrome (XDP, 'lubag') is associated with sequence changes within the TAF1/DYT3 multiple transcript system. Although most sequence changes are intronic, one, disease-specific single-nucleotide change 3 (DSC3), is located within an exon (d4). Transcribed exon d4 occurs as part of multiple splice variants. These variants(More)
We analyzed TAF1/DYT3, a complex transcript system that is composed of at least 43 exons. Thirty-eight exons code for TATA box binding protein associated factor I (TAF1). Five downstream exons (d1–d5) of yet unknown function can either form transcripts with TAF1 exons or be transcribed independently. Splice variants can include d (notably d3 and d4) plus at(More)
Acquisition of new genetic information by horizontal gene transfer is a major mechanism of genetic adaptation and evolution in prokaryotes. Naturally transformable cells of Acinetobacter sp. were exposed to plant DNA from leaf and root tissue of transplastomic tobacco. With the aadA gene (resistance against spectinomycin and streptomycin) as anchor(More)
Infantile-onset ascending spastic paralysis (OMIM #607225) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. We report on a splice acceptor site mutation in intron 9 of ALS2 (IVS9–2A>T) in a German patient from nonconsanguineous parents. The mutation results in skipping of exon 10. This causes a frame-shift(More)
In 60 patients with chronic renal insufficiency and 36 dialysis patients an iliac crest biopsy was performed, on the undecalcified bone morphometric determinations were carried out as well as the aluminium deposition was investigated histochemically. Histologically were found in 3 patients normal findings, in 11 patients a fibroosteoclasia, in 23 patients(More)
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