Search for dissertations about: "Familial amyloid polyneuropathy"

Showing result 1 - 5 of 17 swedish dissertations containing the words Familial amyloid polyneuropathy.

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

    University dissertation from Umeå : Umeå university

    Author : Malin Olsson; Umeå universitet.; Umeå universitet.; [2010]
    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; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics Medical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin Klinisk genetik Medicinsk genetik; MEDICINE Dermatology and venerology; clinical genetics; internal medicine Clinical genetics; MEDICIN Dermatologi och venerologi; klinisk genetik; invärtesmedicin 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

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

    University dissertation from Umeå : Molekylärbiologi (Medicinska fakulteten)

    Author : Malgorzata Pokrzywa; Umeå universitet.; [2008]
    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; NATURAL SCIENCES Biology Cell and molecular biology Molecular biology; NATURVETENSKAP Biologi Cell- och molekylärbiologi 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

  3. 3. Mechanisms involved in amyloid induced cytotoxicity

    University dissertation from Umeå : Molekylärbiologi

    Author : Johan Östman; Umeå universitet.; [2005]
    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

  4. 4. Molecular Aspects of Transthyretin Amyloid Disease

    University dissertation from Linköping : Linköping University Electronic Press

    Author : Karin Sörgjerd; Per Hammarström; Joel Buxbaum; [2008]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloid; apoptosis; BiP; chaperone; misfolding; oligomer; transthyretin; MEDICINE Chemistry Biochemistry; MEDICIN Kemi 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

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

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Joakim Bergström; Uppsala universitet.; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Pathology; Amyloid; Fibril; Aggregation; Apolipoprotein A-IV; Transthyretin; Seeding; Senile systemic amyloidosis; Familial amyloidotic polyneuropathy; Patologi; MEDICINE Morphology; cell biology; pathology Pathology; MEDICIN Morfologi; cellbiologi; patologi 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