Sökning: "ALS"

Visar resultat 1 - 5 av 191 avhandlingar innehållade ordet ALS.

  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 :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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

  2. 2. 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 :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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

  3. 3. ALS – a Clinical Thesis

    Författare :Ingela Nygren; Håkan Askmark; Sten-Magnus Aquilonius; Peter Mattsson; Sebastian Conradi; Uppsala universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Neurosciences; ALS; epidemiology; drug sales statistics; QoL; growth factors; polyamines; Neurovetenskap; Neurology; Neurologi;

    Sammanfattning : Amyotrophic lateral sclerosis (ALS) is characterized by a progressive loss of upper and lower motor neurons, resulting in muscle weakness and death from respiratory failure within 3-5 years after onset. The incidence is 1.5-2.7/100,000 inhabitants. LÄS MER

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

    Författare :Caroline Ingre; Peter M Andersen; Rayomand Press; Siddharthan Chandran; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; 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. 5. 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