Sökning: "Fals"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet Fals.

  1. 1. Using patient-derived cell models to investigate the role of misfolded SOD1 in ALS

    Författare :Elin Forsgren; Jonathan Gilthorpe; Stefan Marklund; Peter Andersen; Thomas Brännström; Ulrika Nordström; Séverine Boillée; Umeå universitet; []
    Nyckelord :ALS; SOD1; patient-derived models; induced pluripotent stem cells; motor neurons; astrocytes; 20S proteasome low oxygen tension; misfolded SOD1; Neurology; neurologi;

    Sammanfattning : Protein misfolding and aggregation underlie several neurodegenerative proteinopathies including amyotrophic lateral sclerosis (ALS). Superoxide dismutase 1 (SOD1) was the first gene found to be associated with familial ALS. LÄS MER

  3. 2. Misfolded superoxide dismutase-1 in sporadic and familial Amyotrophic Lateral Sclerosis

    Författare :Karin Forsberg; Thomas Brännström; Irina Alafuzoff; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; SOD-1 motor neuron; protein misfolding; intranuclear; antibodies; CNS; brain; patologi; Pathology;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative syndrome of unknown etiology that most commonly affects people in middle and high age. The hallmark of ALS is a progressive and simultaneous loss of upper and lower motor neurons in the central nervous system that leads to a progressive muscle atrophy, paralysis and death usually by respiratory failure. LÄS MER

  4. 3. On the aetiology of ALS : a comprehensive genetic study

    Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; risk factor; VAPB; SOD1; amyotrophic lateral sclerosis; ATXN2; SMN1; SMN2; PFN1; 50 bp deletion in SOD1 promotor; population-specific genetic variations; Neurology; neurologi;

    Sammanfattning : Introduction: Amyotrophic lateral sclerosis (ALS) is a deadly, progressive neuromuscular disease that affects individuals all over the world. About 10% of the patients have a familial predisposition (FALS) while the remainder of cases are isolated or sporadic (SALS) and of unknown cause. LÄS MER

  5. 4. Metabolomics studies of ALS : a multivariate search for clues about a devastating disease

    Författare :Anna Wuolikainen; Peter M Andersen; Henrik Antti; Stefan L Marklund; Thomas Moritz; Thomas Hankemeier; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyotrophic lateral sclerosis ALS ; motor neuron disease; Lou Gehrig’s disease; human disease; CSF; biomarkers; metabolomics; metabonomics; chemometrics; design of experiments; multivariate analysis.; Neurology; Neurologi; Neurology; neurologi;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS), also known as Charcot’s disease, motor neuron disease (MND) and Lou Gehrig’s disease, is a deadly, adult-onset neurodegenerative disorder characterized by progressive loss of upper and lower motor neurons, resulting in evolving paresis of the linked muscles. ALS is defined by classical features of the disease, but may present as a wide spectrum of phenotypes. LÄS MER

  7. 5. Characterization of folding dynamics and accelerated electron transfer in proteins

    Författare :Anna Katrine Museth; Linköpings universitet; []
    Nyckelord :NATURAL SCIENCES; NATURVETENSKAP;

    Sammanfattning : The research presented in this thesis is divided in two: The first part is a study of the intracellular protein human copper zinc superoxide dismutase which has been associated with the fatale disease Amyotrophic lateral Selerosis (ALS). ALS is a progressive neurodegenerative disease of motor neurons, and in the cases where the disease is inheriled (fALS), roughly 15% is caused by mutations in human copper·zinc superoxide dismutase (CuZnSOD). LÄS MER