An image of neurofibromine
The structure of neurofibromine. Illustration Andreas Naschberger.

Mutations in the neurofibromine gene can cause the hereditary disease neurofibromatosis type 1, one of the most common hereditary diseases affecting approximately 1 in 3,000 people. Neurofibromine is also anti-tumour, and in 5-10% of all spontaneously behaved tumours, it has been shown that the neurofibromine gene is mutated. Therefore, neurofibromine has also become the focus of cancer research.

"Understanding the molecular basis of how neurofibromine works is therefore a prerequisite for the development of therapeutic methods for neurofibromatosis and cancer drugs. Our group has a very good collaboration and it feels good to be able to combine our scientific and technical knowledge in the search for a greater understanding of this protein," says Marta Carroni, researcher at the Department of Biochemistry and Biophysics at Stockholm University and Head of the National Cryo-EM Unit at Scilifelab.

The research group's results now also create opportunities for further research.

"This work paves the way for a number of studies that can now continue to unravel neurofibromine's mechanisms, its interaction with other molecules and its role in relation to cancer," says Andreas Naschberger, postdoctoral fellow at the Department of Biochemistry and Biophysics at Stockholm University and initiator of the study.

Image of Marta Carroni and Andreas Naschberger. Photograph: Mathieu Coinçon
Marta Carroni and Andreas Naschberger. Photograph: Mathieu Coinçon

Read more

Read the full story in Nature Link to the article

 

You can also read a longer, more in-depth article in English on SciLifeLab´s website Link to the article

 

 

The research group

Andreas Naschberger, Rozbeh Baradaran and Marta Carroni from Stockholm University and SciLifeLab participate together with Bernhard Rupp from the Institute of Genetic Epidemiology in Innsbruck. The project has received financial support from, among others, the Knut and Alice Wallenberg Foundation and SciLifeLab. You can also read a longer, more in-depth article in English on SciLifeLabs´s website