Sökning: "fibril type"
Visar resultat 1 - 5 av 49 avhandlingar innehållade orden fibril type.
1. Cardiac function in hereditary transthyretin amyloidosis : an echocardiographic study
Sammanfattning : 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. LÄS MER
2. Two Types of Fibrils in ATTR Amyloidosis : Implications for Clinical Phenotype and Treatment Outcome
Sammanfattning : 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. LÄS MER
3. Apolipoprotein A-IV and Transthyretin in Swedish Forms of Systemic Amyloidosis
Sammanfattning : 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. LÄS MER
4. Domain swapping as a molecular mechanism in amyloidosis
Sammanfattning : 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. LÄS MER
5. The heart in hereditary transthyretin amyloidosis : clinical studies on the impact of amyloid fibril composition
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