Sökning: "LRRK2"

Visar resultat 1 - 5 av 8 avhandlingar innehållade ordet LRRK2.

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

    Författare :Andreas Puschmann; Sektion IV; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 2. On the roles of genes in Parkinson's disease

    Författare :Marie Westerlund; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Parkinson’s disease is a progressive neurodegenerative disorder which affects 1% of the population over the age of 60. In order to identify candidate genes with a potential role in Parkinson’s disease pathology, we investigated genes which are involved in protein aggregation and the ubiquitin‐proteasome system (α‐synuclein and ubiquitin carboxy‐terminal hydrolase L1, UCH‐L1), oxidative stress (DJ‐1), mitochondrial function (mitochondrial transcription factor A, TFAM), regulation of drug/toxin levels (multi‐drug resistance 1, MDR1 and alcohol and aldehyde dehydrogenases, ADH and ALDHs), as well as a gene with unknown function, but highly implicated in Parkinson’s disease genetics (leucine‐rich repeat kinase 2, LRRK2). LÄS MER

  4. 3. Neurodegenerative diseases studied in human brain and rodent models

    Författare :Sandra Gellhaar; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Parkinson’s and Alzheimer’s disease are the two most common neurodegenerative diseases world-wide, but are still little understood. Papers in this thesis examine some of the possible pathogenic mechanisms with the help of mouse models and analysis of human post-mortem tissue. LÄS MER

  5. 4. Identification of novel Wnt/PCP signaling regulators and their role in midbrain dopaminergic neuron development and Parkinson's disease

    Författare :Alena Salašová; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Wnt signaling controls a wide spectrum of complex cell responses during prenatal development, in the adulthood and during disease. In this doctoral study, we have identified and explored novel regulatory components of Wnt/Planar Cell Polarity (PCP) pathway and their function in various cellular processes during embryogenesis and central nervous system (CNS) development. LÄS MER

  7. 5. The circuit and synaptic organization of the basal ganglia output : mechanistic insights on movement disorders and action control

    Författare :Giacomo Sitzia; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Understanding the neural circuitry underlying movement is a neuroscientific challenge that promises to help refining currently available treatments for movement disorders. Key structures for movement and action control are the basal ganglia nuclei, whose complexity has only just started to be resolved. LÄS MER