Sökning: "Transthyretin Amyloidosis"

Visar resultat 1 - 5 av 26 avhandlingar innehållade orden Transthyretin Amyloidosis.

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

    Detta är en avhandling från Umeå : Molekylärbiologi (Medicinska fakulteten)

    Författare :Malgorzata Pokrzywa; Umeå universitet.; [2008]
    Nyckelord :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;

    Sammanfattning : 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. LÄS MER

  2. 2. Hereditary transthyretin amyloidosis (ATTR V30M) from genes to genealogy

    Detta är en avhandling från Umeå : Umeå Universitet

    Författare :Nina Norgren; Umeå universitet.; [2014]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hereditary transthyretin amyloidosis; Familial amyloid polyneuropathy; transthyretin; genealogy; founder effect; miRNA; allele-specific expression; gene expression; liver; medicin; Medicine;

    Sammanfattning : Background: Hereditary transthyretin amyloidosis is an autosomal dominant disease with a reduced penetrance. The most common mutation in Sweden is the V30M mutation in the transthyretin gene. Clustering areas of the disease can be found in Northern Sweden, Portugal, Brazil and Japan, although sporadic cases exist worldwide. LÄS MER

  3. 3. The heart in hereditary transthyretin amyloidosis clinical studies on the impact of amyloid fibril composition

    Detta är en avhandling från Umeå : Umeå University

    Författare :Björn Pilebro; Umeå universitet.; [2017]
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; Transthyretin; Cardiomyopathy; Echocardiography; Scintigraphy; Positron emission tomography; cardiovascular disease; hjärt- och kärlforskning; Cardiology; kardiologi; Clinical Physiology; klinisk fysiologi;

    Sammanfattning : Background Hereditary transthyretin amyloid (ATTRm) amyloidosis is a systemic disease mainly affecting the peripheral nervous system and the heart. The disease is inherited in an autosomal dominant manner with a varying penetrance. It is caused by mutations in the transthyretin (TTR) gene. Today more than 100 disease causing mutations are known. LÄS MER

  4. 4. Transthyretin and the transthyretin-related protein: A structural study

    Detta är en avhandling från Umeå : Umeå centrum för molekylär patogenes (UCMP) (Teknisk-naturvetenskaplig fakultet)

    Författare :Erik Lundberg; Umeå universitet.; [2006]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Transthyretin; Transthyretin-related protein; X-ray crystallography; Protein structure; Amyloidosis; NATURAL SCIENCES Chemistry Biochemistry Structural biology; NATURVETENSKAP Kemi Biokemi Strukturbiologi;

    Sammanfattning : Transthyretin (TTR) is one of several proteins involved in amyloid disease in humans. Unknown conformational changes of the native state of TTR result in aggregation of TTR molecules into amyloid fibrils, which accumulate in extracellular tissues. This may result in different clinical symptoms, e.g. LÄS MER

  5. 5. Heparan Sulfate Dependent Mechanisms of Amyloidosis

    Detta är en avhandling från Uppsala : Acta Universitatis Upsaliensis

    Författare :Fredrik Noborn; Uppsala universitet.; [2012]
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Amyloidosis; Heparan sulfate; Transthyretin; Serum amyloid A; Amyloid-beta; lipoproteins; Medicinsk biokemi; Medical Biochemistry;

    Sammanfattning : A common theme in amyloid disorders is the deposition of disease-specific protein aggregates in tissues. Amyloid proteins bind to heparan sulfate (HS), a sulfated glycosaminoglycan, and HS has been found to promote the aggregation process. LÄS MER