Article
A nonsense mutation in mouse Tardbp affects TDP43 alternative splicing activity and causes limb-clasping and body tone defects.
PloS one - 1 Jan 2014
Ricketts Thomas, McGoldrick Philip, Fratta Pietro, de Oliveira Hugo M, Kent Rosie, Phatak Vinaya, Brandner Sebastian, Blanco Gonzalo, Greensmith Linda, Acevedo-Arozena Abraham, Fisher Elizabeth M C
Abstract excerpt
Mutations in TARDBP, encoding Tar DNA binding protein-43 (TDP43), cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Attempts to model TDP43 dysfunction in mice have used knockouts or transgenic overexpressors, which have revealed the difficulties of manipulating TDP43, whose level is tightly controlled by auto-regulation. In a complementary approach, to create useful mouse models for...
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