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Showing result 1 - 5 of 17 swedish dissertations matching the above criteria.

  2. 1. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Author : Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Abstract : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. READ MORE

  4. 2. A Drosophila Disease-Model for Transthyretin-associated Amyloidosis

    Author : Malgorzata Pokrzywa; Erik Lundgren; Damian Crowther; Umeå universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; transthyretin; amyloid; amyloidosis; Drosophila; transthyretin-associated amyloidosis; Familial amyloid polyneuropathy; neurodegeneration; serum amyloid P component; Non-steroidal Anti-Inflammatory Drugs; drug screens; Molecular biology; Molekylärbiologi;

    Abstract : Amyloidoses comprise a group of gain-of-toxic function protein misfolding diseases, in which normally soluble proteins in their functional state undergo conformational changes into highly organized and generally intractable thread-like aggregates, termed amyloid fibrils. These structures accumulate predominantly in the extracellular space but growing evidence suggests that amyloids may start to form intracellularly. READ MORE

  5. 3. Mechanisms involved in amyloid induced cytotoxicity

    Author : Johan Östman; Lars Lannfelt; Umeå universitet; []
    Keywords : amyloid; transthyretin; cytotoxicity; apoptosis; caspases; aggregation; molekylärbiologi; Molecular Biology;

    Abstract : Amyloidoses comprise a group of diseases where normal or mutated protein precipitates into amyloid fibrils. The deposition of fibrils causes dysfunction of organs and toxicity to nervous tissue. Up to date, 24 different proteins and peptides are known to be able to form amyloid fibrils. READ MORE

  6. 4. Molecular Aspects of Transthyretin Amyloid Disease

    Author : Karin Sörgjerd; Per Hammarström; Joel Buxbaum; Linköpings universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloid; apoptosis; BiP; chaperone; misfolding; oligomer; transthyretin; Biochemistry; Biokemi;

    Abstract : This thesis was made to get a deeper understanding of how chaperones interact with unstable, aggregation prone, misfolded proteins involved in human disease. Over the last two decades, there has been much focus on misfolding diseases within the fields of biochemistry and molecular biotechnology research. READ MORE

  7. 5. Apolipoprotein A-IV and Transthyretin in Swedish Forms of Systemic Amyloidosis

    Author : Joakim Bergström; Per Westermark; Giampaolo Merlini; Uppsala universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pathology; Amyloid; Fibril; Aggregation; Apolipoprotein A-IV; Transthyretin; Seeding; Senile systemic amyloidosis; Familial amyloidotic polyneuropathy; Patologi; Pathology; Patologi;

    Abstract : Over 20 different plasma proteins have been shown to have the capacity to undergo conformational changes and self-assemble into highly stable and insoluble amyloid fibrils. One, transthyretin (TTR), consists of 127 amino acid residues arranged in eight β-strands (named A to H) and is involved in two different clinical forms of amyloidosis. READ MORE