Research Interests

Molecular, Cellular & Pathophysiological Aspects of Ribosome Biogenesis

Research Area

Ribosomes are essential nanomachines inside our cells, responsible for all protein production. There are diseases associated with both excess (cancers) and insufficiency (ribosomopathies) of functional ribosomes. Ribosomopathies are ribosome biogenesis dysfunction diseases caused by mutations in ribosomal components or assembly factors. They are tissue-specific diseases primarily affecting the brain and blood. The tissue-specific origin of ribosomopathies is not well understood. We are studying hematological (anemia, etc.) and neurological disorders (intellectual disability, microcephaly, etc.) associated with ribosome biogenesis dysfunction. To establish the molecular basis of a disease, its impact on early embryogenesis and brain development, and its tissue-specific origin, we model patient mutations by means of genome editing in cells (CRISPR-Cas9), and in vertebrate models, including Xenopus laevis and tropicalis. We are also studying the structure-function relationships in the nucleolus, a biomolecular condensate form by liquid-liquid phase separation, which is the place in cells where the initial steps of ribosome biogenesis occur.

Current Members

Lafontaine, Denis L. J. (Principal Investigator/Director) Contact

Contact

Institution: Université libre de Bruxelles

Address:
Université libre de Bruxelles
Biopark campus
Brussels
Belgium

Web Page: https://www.lafontainelab.com/molecular-cellular-pathophysiological-aspects-of-ribosome-biogenesis/