Code
01DI2714
Duration
01 September 2014 → 31 August 2015
Funding
Regional and community funding: Special Research Fund
Promotor
Fellow
Research disciplines
-
Natural sciences
- Genetics
- Systems biology
-
Social sciences
- Biological and physiological psychology
- Cognitive science and intelligent systems
- Developmental psychology and ageing
-
Medical and health sciences
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Neurosciences
- Orthopaedics
- Pediatrics and neonatology
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Neurosciences
- Orthopaedics
- Pediatrics and neonatology
- Nursing
- Laboratory medicine
- Medical systems biology
- Molecular and cell biology
- Neurosciences
- Orthopaedics
- Pediatrics and neonatology
Keywords
combined OXPHOS deficiencies
nDNA
mitochondria
Project description
The goal of this project is to discover new genetic causes in patients diagnozed with an OXPHOS deficiency. This will be performed using genetic
analyses in tissues and cells from patients with combined deficiencies involving either complex I+IV or complex I+II. Once new genetic variants have
been detected, experiments will be done to confirm the pathogenic character of the mutation.