Article
Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish.
Human molecular genetics - 15 Jun 2013
Hewamadduma Channa A A, Grierson Andrew J, Ma Taylur P, Pan Luyuan, Moens Cecilia B, Ingham Philip W, Ramesh Tennore, Shaw Pamela J
Abstract excerpt
Mutations in the transactive response DNA binding protein-43 (TARDBP/TDP-43) gene, which regulates transcription and splicing, causes a familial form of amyotrophic lateral sclerosis (ALS). Here, we characterize and report the first tardbp mutation in zebrafish, which introduces a premature stop codon (Y220X), eliminating expression of the Tardbp protein. Another TARDBP ortholog, tardbpl, in zebrafish is shown to...
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