Sökning: "misfolded SOD1"

Visar resultat 1 - 5 av 8 avhandlingar innehållade orden misfolded SOD1.

  1. 1. SOD1 misfolding and aggregation in ALS : in the light of conformation-specific antibodies

    Författare :Manuela Lehmann; Jonathan D. Gilthorpe; Stefan L. Marklund; Thomas Brännström; Ulrika Nordström; Elizabeth Fisher; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; antibodies; SOD1; disordered SOD1; patient-derived models; low oxygen tension; Immunotherapy;

    Sammanfattning : Mutations in the superoxide dismutase 1 (SOD1) gene are linked to the progressive neurodegenerative disease amyotrophic lateral sclerosis (ALS). ALS-associated mutations affect the stability of the SOD1 protein and promote its unfolding. As a consequence, disordered SOD1 species can misfold and accumulate into insoluble aggregates. LÄS MER

  3. 2. 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

  4. 3. Structural investigation of SOD1 aggregates in ALS : identification of prion strains using anti-peptide antibodies

    Författare :Johan Bergh; Thomas Brännström; Stefan L. Marklund; Peter M. Andersen; Joakim Bergström; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; SOD1; prion; motor neuron disease; neurodegeneration; strain; seeding; protein aggregation; transgenic mice; peptide antibodies; Neurology; neurologi;

    Sammanfattning : Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative syndrome characterized by progressive degeneration of motor neurons that result in muscle wasting. The symptoms advance gradually to paralysis and eventually death. Most patients suffer from sporadic ALS (sALS) but 10% report a familial predisposition. LÄS MER

  5. 4. Of mice and men : SOD1 associated human amyotrophic lateral sclerosis and transgenic mouse models

    Författare :Karin Sixtensdotter Graffmo; Thomas Brännström; Stefan Marklund; Elisabeth Englund; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; aggregates; ALS; amyotrophic lateral sclerosis; inclusions; misfolded; vacuolisation; SOD1; transgenic; Pathology; Patologi;

    Sammanfattning : Amyotrophic lateral sclerosis, ALS, is a progressive fatal neurodegenerative disorder affecting motor neurones in motor cortex, brain stem and spinal cord. This inevitably leads to paralysis, respiratory failure and death. LÄS MER

  7. 5. Misfolded superoxide dismutase-1 in amyotrophic lateral sclerosis

    Författare :Per Zetterström; Stefan L Marklund; Lawrence J. Hayward; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; ALS; SOD1; protein misfolding; SOD1 conformation; disulfide-reduced; transgenic mice; cerebrospinal fluid; protein-protein interaction; antibodies; Clinical chemistry; Klinisk kemi; Clinical Chemistry; klinisk kemi;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is a disease in which the motor neurons die in a progressive manner, leading to paralysis and muscle wasting. ALS is always fatal, usually through respiratory failure when the disease reaches muscles needed for breathing. Most cases are sporadic, but approximately 5–10% are familial. LÄS MER