Sökning: "POLG1"

Hittade 4 avhandlingar innehållade ordet POLG1.

  1. 1. Crisis in Energy Metabolism - Mitochondrial Defects and a New Disease Entity

    Författare :Gittan Kollberg; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Energy metabolism; Mitochondrial Disorders; mtDNA; multiple mtDNA deletions; Alpers-Huttenlocher syndrome; POLG1; GYS1; glycogen synthase; point mutation; Polymerase gamma;

    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

  3. 2. Stem cell-based models to study cellular alterations in Parkinson’s Disease

    Författare :Margarita Chumarina; Stamcellslaboratoriet för sjukdomsmodellering i det centrala nervsystemet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; stem cells; IPSCs; dopaminergic neurons; oligodendrocytes; omics;

    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

  4. 3. Genotypic and phenotypic spectrum of mitochondrial diseases with focus on early onset mitochondrial encephalopathies

    Författare :Kalliopi Sofou; Göteborgs universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Mitochondrial diseases; mitochondrial encephalopathy; Alpers syndrome; Leigh syndrome; neuroimaging; whole exome sequencing;

    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

  5. 4. Genes involved in Parkinson's disease : focus on mitochondrial and detoxifying enzymes

    Författare :Anna Anvret; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    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