Exonic mutations in FTDP Sample Clauses

Exonic mutations in FTDP. 17 There are several exonic mutations within the ESE sequences of tau exon 10 which enhance splicing of exon 10 rather than reduce microtubule assembly (Xxxxxxxx et al., 1999). Exonic mutations that affect tau exon 10 splicing include, N279K and Del280K associated with FTDP-17 which disrupts the PPE splicing enhancer in exon 10 by adding or removing an AAG motif in the normal sequence of PPE respectively (Figure 1.5) (X'Xxxxx and Xxxxxxxxxxxx, 2005; Xxxxx et al., 2003). The N279K mutation strengthens the PPE while the Del280K mutation abolishes it (Xxxxx et al., 2004). The SR-related protein tra2β (transformer 2 β) which regulates tau exon 10 splicing has a higher affinity for PPE with N279K mutation and promotes exon 10 inclusion while Del280K reduces exon 10 inclusion (X'Xxxxx and Xxxxxxxxxxxx, 2005; Xxxxx et al., 2004).
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