Search for dissertations about: "Familial amyloid polyneuropathy"
Showing result 11 - 15 of 17 swedish dissertations containing the words Familial amyloid polyneuropathy.
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11. Hypertrophic cardiomyopathy in Northern Sweden : with special emphasis on molecular genetics
Abstract : Hypertrophic cardiomyopathy (HCM) is a heterogeneous, often familial disease, characterized by cardiac hypertrophy, predominantly affecting the interventricular septum. To date, no study has systematically analysed the genetic and phenotypic aspects of the disease in a Swedish population. READ MORE
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12. Gastrointestinal disturbances in hereditary transthyretin amyloidosis
Abstract : BackgroundTransthyretin amyloid (ATTR) amyloidosis is a systemic disorder caused by amyloid deposits formed by misfolded transthyretin (TTR) monomers. Two main forms exist – wild-type and hereditary ATTR amyloidosis, the latter associated with TTR gene mutations. READ MORE
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13. Hereditary transthyretin amyloidosis (ATTR V30M) : from genes to genealogy
Abstract : 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. READ MORE
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14. Modeling Amyloid Disease in Drosophila melanogaster
Abstract : Amyloid diseases are caused by protein misfolding and aggregation. To date there are 27 known proteins causing amyloid disorders involving brain and peripheral protein deposition. The proteins involved in this mechanism do not share sequence homology, but the amyloid fibrils share biophysical properties and possibly a common pathogenic mechanism. READ MORE
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15. Prefibrillar oligomeric Transthyretin mutants - amyloid conformation, toxicity and association with Serum amyloid P component
Abstract : Amyloidoses represent a heterogeneous group of diseases characterized by abnormal protein metabolism leading to extracellular deposition of fibrillar, proteinaceous amyloid in various tissues and organs of the body. To date more than 20 different proteins have been linked to diseases with amyloid depositions, of which Alzheimer’s disease and the prion-associated diseases are the most well known. READ MORE
