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1. AL amyloidosis : Study of epidemiology, diagnosis and treatment with emphasis on heart involvement
Sammanfattning : AL (immunoglobulin light chain) amyloidosis is often associated with delayed diagnosis and thereby high early mortality that is not overcome by contemporary treatment. There is a need for diagnostic methods promoting earlier diagnosis, especially in patients with cardiac involvement. LÄS MER
2. A Drosophila Disease-Model for Transthyretin-associated Amyloidosis
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
3. Heparan Sulfate Dependent Mechanisms of Amyloidosis
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
4. 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
5. Cardiac involvement in familial amyloidosis with polyneuropathy
Sammanfattning : Familial amyloidosis with polyneuropathy (FAP) is a neuropathic form of heredofamilial systemic amyloidosis. Clusters of patients have been reported predominantly from Portugal, Japan and Sweden. The present study examines the involvement of the heart in individuals with the Swedish variety of FAP. LÄS MER