RNA and neurodegenerative disease

In recent years more and more defects in RNA maturation have been linked to disease. Mutations in several ribosomal proteins and ribosome assembly factors were shown to cause tissue-specific congenital diseases in humans. But also errors in modification and miss-processing has been shown to lead to deleterious  aggregation of some RNAs. We are studying several links between RNA and disease development such as the role of paraspeckles componenets – proteins and RNA – in ALS, and the role of RNA oxidation in the onset of Alzheimer’s Disease.