The Role of Tau in Neurodegenerative Diseases and Its Potential as a Therapeutic Target
Figure 4
Mutations in tau associated with dominant familial frontotemporal dementia. (a) Almost all mutations in the coding region are found in the C-terminal region, in and around the microtubule binding domains. Some of these are specific to the 4R isoforms, as they are encoded in exon 10. Mutations in red lead to increased 4R tau relative to 3R tau. The asterisk near S352L denotes a single example of a lethal recessive tau mutation, which presented as respiratory hypoventilation and displayed neuronal tau pathology [85]. (b) Other mutations are found in the intron following exon 10, and these disrupt a hairpin structure in the pre-mRNA that regulates exon 10 inclusion/exclusion.
