Search for dissertations about: "PINK1"

Showing result 1 - 5 of 6 swedish dissertations containing the word PINK1.

  2. 1. Functional genomics studies of PINK1

    Author : Camilla Scheele; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Functional genomics has become an important and established research discipline during the last 10 years, mainly as a consequence of the completion of large-scale genome sequencing projects. The human genome is now predicted to transcribe 20,000-25,000 protein coding genes, which is only a quarter of the number suggested a few years ago. READ MORE

  4. 2. Mechanism of action of autosomal recessive juvenile parkinsonism gene mutations

    Author : Anna Sandebring; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Parkinson Disease (PD) is the most common neurodegenerative movement disorder. Although PD is a largely sporadic disease, several genes has been linked to familial forms of PD. This thesis focuses on the mechanism of function of the Autosomal Recessively Juvenile Parkinsonism (AR-JP) associated genes parkin, PTEN induced kinase 1 (PINK1) and DJ-1. READ MORE

  5. 3. Heredity in Parkinson's disease. From rare mutations to common genetic risk factors

    Author : Andreas Puschmann; Sektion IV; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Parkinson s disease; parkinsonism; genetics; alpha-synuclein; SNCA duplicaion; SNCA triplication; LRRK2; PARKIN; PARK2; VPS35; EIF4G1; rare variants; digenic inheritance; heritability;

    Abstract : This study investigated genetic causes of Parkinson's disease (PD) and parkinsonism in southern Sweden. The extensive Lister Family with parkinsonism caused by duplications and triplications of the gene for alpha-synuclein (SNCA) was studied. Clinical, genetic and genealogical data were compiled and evaluated. READ MORE

  6. 4. Recessive parkinsonism, mitochondria and translational regulation

    Author : Jeff Blackinton; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Three genes are known to cause recessive forms of Parkinson disease (PD) in humans: parkin, PINK1 and DJ-1. Of these, the rarest is DJ-1; less than fifty known cases worldwide are due to mutations in DJ-1. READ MORE

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

    Author : Anna Anvret; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : 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. READ MORE