Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43)inclusions. We identified mutations in TDP-43 in sporadic and familial ALS cases. Mutant forms of TDP-43 fragmented in vitro more readily than wild type and, in vivo, caused neural apoptosis and developmental delay in the chick embryo. As TDP is associated with RNA processing this paper indikates the increasing imortance of understanding the RNA biology in neurodegenerative diseases.
F.02 Acquisition of new scientific knowledge
COBISS.SI-ID: 24798681We have recently identified a TARDBP mutation (the gene encoding TDP-43) in a single familial ALS kindred. By being invited to this conference I shared our findings with the Slovenian and international scientists working on ALS.
B.03 Paper at an international scientific conference