Sökning: "polg1"
Hittade 4 avhandlingar innehållade ordet polg1.
1. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity
Sammanfattning : Impairment of energy metabolism may be associated with severe implications for affected individuals since all fundamental cell functions are energy-dependent. Disorders of energy metabolism are often genetic and associated with defects in the oxidative phosphorylation in mitochondria. LÄS MER
2. Stem cell-based models to study cellular alterations in Parkinson’s Disease
Sammanfattning : Parkinson’s Disease (PD) is the most prevalent neurodegenerative movement disorder. Despite investigative efforts into the pathogenesis of the disease, the aetiology and mechanism of PD remains unknown, with multiple factors and cellular pathways known to play a part. LÄS MER
3. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies
Sammanfattning : Early-onset mitochondrial encephalopathies comprise a challenging group of neurodegenerative disorders. This is due to their progressive nature, often leading to major disability and premature death, as well as their diagnostic complexity and lack of customized treatments. LÄS MER
4. Genes involved in Parkinson's disease : focus on mitochondrial and detoxifying enzymes
Sammanfattning : Parkinson's disease is a common progressive neurodegenerative disorder which mostly affects the elderly population, with a prevalence of more than 1.5% in the population over the age of 65 years. Clinical motor symptoms are mainly caused by degeneration of dopamine neurons in substantia nigra pars compacta. LÄS MER