Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin …

Patient cohorts and ethics statement Appropriate approval and procedures were used concerning human subjects. Blood samples were drawn with prior informed written consent according to the Declaration of Helsinki (WMA, 1964) approved by the national medical ethical review boards. Anonymous genotyping by sequencing of the PFN1 gene was performed as previously described [10]. Analysis of lymphoblastoid cell lines (LCLs) Epstein-Barr virus transformed LCLs were generated from healthy controls, PFN1 T109M mutant ALS patients as well as pre-clinical mutation carriers. cDNA of LCLs was used for quantitative real-time PCR (qRT-PCR) measurements of PFN1 mRNA run on a CFX96 Real-Time System (Bio-Rad) using oligonucleotides spanning Exons 2 and 3: 5′-GCCAGAAATGTTCGGTGATC-3′ and 5′-CTTTGCCCATCAGCAGGAC-3′. Results were normalized relative to U6 snRNA [20] using 2 −ΔΔCt -method [21]. Lysates of LCLs were subjected to Western…


Link to Full Article: Profilin 1 with the amyotrophic lateral sclerosis associated mutation T109M displays unaltered actin …