1.

Importance of RNA processing proteins for neurodegeneration

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 importance of understanding the RNA biology in neurodegenerative diseases.

F.02 Acquisition of new scientific knowledge

COBISS.SI-ID: 22877479

2.

TDP-43 and FUS in amyotropic lateral sclerosis

Invited 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 importance of understanding the RNA biology in neurodegenerative diseases.

B.03 Paper at an international scientific conference

COBISS.SI-ID: 23059239