Project

Unraveling the role of the KEOPS complex in Galloway-Mowat syndrome

Duration
01 October 2016 → 30 September 2020
Funding
Research Foundation - Flanders (FWO)
Research disciplines
  • Medical and health sciences
    • Laboratory medicine
    • Medical systems biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
    • Laboratory medicine
    • Medical systems biology
    • Molecular and cell biology
Keywords
KEOPS complex Galloway-Mowat syndrome neurodegenerative disorders
 
Project description

We want to unravel how mutations in the KEOPS complex are involved in Galloway-Mowat syndrome, a rare autosomal recessive neurodegenerative disorder. We will make use of in vitro and in vivo model systems to untangle which pathways are affected and whether the localisation and/or expression pattern of the units of the KEOPS complex is altered by the specific mutations.