Functional significance of TDP-43 mutations in disease
E Buratti - Advances in genetics, 2015 - Elsevier
At present, there are very few therapeutic options for patients affected by amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). However, almost all patients affected by
ALS or tau-negative FTD share in their brains the presence of aggregated TDP-43, a nuclear
factor that plays an important role in regulating RNA metabolism. For this reason, this protein
represents a very promising target to develop novel therapeutic options. Over the years,
these options have mostly involved the search for new effectors capable of reducing …
sclerosis (ALS) and frontotemporal dementia (FTD). However, almost all patients affected by
ALS or tau-negative FTD share in their brains the presence of aggregated TDP-43, a nuclear
factor that plays an important role in regulating RNA metabolism. For this reason, this protein
represents a very promising target to develop novel therapeutic options. Over the years,
these options have mostly involved the search for new effectors capable of reducing …
