Sökning: "Transthyretin Amyloidosis"

Visar resultat 16 - 20 av 30 avhandlingar innehållade orden Transthyretin Amyloidosis.

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

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  3. 17. Studies on molecular aspects of Transthyretin Amyloidosis

    Författare :Raul Ivan Campos Melo; Linköpings universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES;

    Sammanfattning : Proteins are versatile molecules that play a variety of roles in maintaining the human body, e.g. transport of nutrients. Transthyretin (TTR) is a 55 kDa homotetrameric protein found in human plasma and in the cerebrospinal fluid, responsible for the transport of retinol (vitamin A) and T4 (thyroxine). LÄS MER

  4. 18. Kinetic stabilization of transthyretin and its role as an inhibitor of Aβ amyloid formation

    Författare :Lina Nilsson; Anders Olofsson; Elisabeth Sauer-Eriksson; Gunilla Westermark; Umeå universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Amyloid; transthyretin; amyloid beta; kinetic stabilizer; biokemi; Biochemistry;

    Sammanfattning : Amyloid formation occurs when normally soluble proteins and peptides misfold and aggregate into intractable threadlike structures called fibrils. There are currently more than 30 proteins associated with this aberrant structure, including the Aβ peptide in Alzheimer’s disease (AD) and transthyretin (TTR) in TTR amyloidosis. LÄS MER

  5. 19. Transthyretin in senile systemic amyloidosis and familial amyloidotic polyneuropathy

    Författare :Åsa Gustavsson; Maria João Mascharenhas Saraiva; Linköpings universitet; []
    Nyckelord :MEDICINE; MEDICIN;

    Sammanfattning : The amyloidoses comprise a heterogeneous group of disorders characterized by the deposition of fibrillar, proteinaceous amyloid deposits in various organs and tissues. To date, 17 different proteins of various sizes have been identified as amyloid proteins. LÄS MER

  7. 20. Targeting cytotoxic species in amyloid diseases

    Författare :Malin Lindhagen Persson; Anders Olofsson; Lars Tjernberg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer s disease; Amyloid-beta; transthyretin; FAP; amyloid; cytotoxic species; oligomers; medicinsk biokemi; Medical Biochemistry;

    Sammanfattning : Amyloid diseases are a world-wide problem causing great human suffer and large economical costs. Although amyloid deposits, a common denominator in all amyloid disorders, are detrimental to the surrounding tissue, there is a poor correlation between total amyloid burden and clinical symptoms. LÄS MER