We 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
COBISS.SI-ID: 22912807Amyotrophic 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: 24798681Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. In 2008 we identified mutations in TDP-43 in sporadic and familial ALS cases. In 2009 we identified mutations in FUS also associate with ALS. Both proteins are involved in RNA processing and they indicate the increasing imortance of understanding the RNA biology in neurodegenerative diseases.
F.02 Acquisition of new scientific knowledge
COBISS.SI-ID: 22877479Invited talk given at the Conference of Slovenian Neuroscience association. Amyotrophic lateral sclerosis (ALS) is a fatal motor neuron disorder characterized pathologically by ubiquitinated TAR DNA binding protein (TDP-43) inclusions. In 2008 we identified mutations in TDP-43 in sporadic and familial ALS cases. In 2009 we identified mutations in FUS also associate with ALS. Both proteins are involved in RNA processing and they indicate the increasing imortance of understanding the RNA biology in neurodegenerative diseases.
B.03 Paper at an international scientific conference
COBISS.SI-ID: 23059239Invited talk given at the International Society for Neurochemistry meeting in Busan, South Korea 2009. The talk was based on the association of TDP-43 mutations with amyotrophic lateral sclerosis. Novel RNA binding properties of TDP-43 were discussed and related to neurodegenerative diseases such as ALS, fronto temporal dementia and Alzheimer's disease.
B.03 Paper at an international scientific conference
COBISS.SI-ID: 22913063