To quantify the concentration of p-tau and TDP-43 in the human brain homogenates, ELISA assays were carried out using commercially available kits (p-tau199 human ELISA Kit, ThermoFisher Scientific, #KHO0631 and human full-length (1-300aa.) TDP-43 ELISA Kit, Proteintech, #KE00005), accordi...
The full coding sequence of human TDP-43 (Uniplot ID: Q13148) wild type (WT) and its mutant (G348C) were synthesized by Genescript and were inserted into pUC57 vector (Addgene). To construct the plasmid pUAST-TDP-43(WT) and pUAST-TDP-43(G348C), the full coding sequence of human ...
These cases were referred to as ADTDP + FL because full-length TDP-43 was presumably present in the aggregates. FTLD-TDP cases showed a similar molecular TDP-43 pattern. A second pattern, which was not seen in FTLD-TDP, was observed in most of p-preAD, as well as 30 neuropathologica...
On the other hand, we observed a reduction in wild-type TUBA4A mRNA as well as full-length TUBA4A protein levels in the R64Gfs*90 TUBA4A patient, pointing towards haploinsufficiency as a possible underlying pathogenic mechanism. However, we cannot fully exclude the possibility that a shortened...