Search for dissertations about: "fibril type"

Showing result 1 - 5 of 49 swedish dissertations containing the words fibril type.

  2. 1. Cardiac function in hereditary transthyretin amyloidosis : an echocardiographic study

    Author : Sandra Arvidsson; Per Lindqvist; Eva Nylander; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloid; echocardiography; ECG; HCM; fibril type; strain; ATTR; cardiomyopathy; speckle tracking;

    Abstract : Background: Hereditary transthyretin amyloidosis (ATTR) is a lethal disease in which misfolded transthyretin (TTR) proteins accumulate as insoluble aggregates in tissues throughout the body. A common mutation is the exchange of valine to methionine at place 30 (TTR V30M), a form endemically found in the northern parts of Sweden. READ MORE

  4. 2. Two Types of Fibrils in ATTR Amyloidosis : Implications for Clinical Phenotype and Treatment Outcome

    Author : Elisabet Ihse; Per Westermark; Per Hammarström; Uppsala universitet; []
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; amyloid; transthyretin; familial amyloidotic polyneuropathy; TTRV30M; non-TTRV30M; wild-type; liver transplantation; cardiomyopathy; fibril composition; Biokemi; Biochemistry; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi; Experimentell patologi; Experimental Pathology; Medical Biochemistry; Medicinsk biokemi; Molecular Biology; Molekylärbiologi; Pathology; Patologi;

    Abstract : Systemic amyloidoses are a group of lethal diseases where proteins aggregate into fibrillar structures, called amyloid fibrils, that deposits throughout the body. Transthyretin (TTR) causes one type of amyloidosis, in which the aggregates mainly infiltrate nervous and cardiac tissue. READ MORE

  5. 3. 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

  6. 4. Domain swapping as a molecular mechanism in amyloidosis

    Author : Maria Wahlbom; Avdelningen för klinisk kemi och farmakologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Clinical chemistry; Klinisk kemi; Medicin människa och djur ; Medicine human and vertebrates ; oligomer; dimer; domain swapping; fibril; cystatin C; amyloidosis;

    Abstract : Amyloidosis is a group of diseases characterized by a change in protein conformation resulting in aggregation and tissue deposition of amyloid fibrils. One variant of cystatin C, L68Q cystatin C, is highly amyloidogenic and persons carrying the corresponding gene suffer from massive cerebral amyloidosis leading to brain hemorrhage and death. READ MORE

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

    Author : Björn Pilebro; Ole Suhr; Henning Mölgaard; Umeå universitet; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Amyloidosis; Transthyretin; Cardiomyopathy; Echocardiography; Scintigraphy; Positron emission tomography; cardiovascular disease; hjärt- och kärlforskning; kardiologi; Cardiology; Clinical Physiology; klinisk fysiologi;

    Abstract : 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. READ MORE