On this conference we reported mutations of FUS associated with amyotrophic lateral sclerosis (ALS). FUS is a nuclear protein, whose main known function is in metabolism of RNA (splicinng and expression of mRNA, miRNA biogenesis, etc.). This finding suggests the increasing importance of RNA metabolism in neurodegenerative diseases, especially as TDP-43, another ALS associated protein has simillar characteristics.
B.03 Paper at an international scientific conference
COBISS.SI-ID: 23675687Talk at a conference where we presente our recent paper. We have identified that TDP-43 is imported into the nucleus via the Karyopheirn beta 1 pathway. We have also observed that one of the members of the pathway, CAS (cell apoptosis susceptibility protein) is greatly reduced in the post-mortem brain tissue of patients who had FTLD, which may be one of the reasons for cytoplasmic TDP-43 accumulation in this disease. This finding suggests that the disturbance in the nuclear transport of TDP-43 could be one of the root causes of TDP-43 proteinopathies.
B.03 Paper at an international scientific conference