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Transthyretin Deposition in Familial Amyloidotic Polyneuropathy

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The subject of the review is on hereditary transthyretin (TTR) amyloidosis which is a genetically transmitted disease that results from a mutation in the gene encoding the plasma TTR protein. TTR is a transport protein for thyroid hormones and vitamin A and is predominantly synthesised in the liver. Although originally regarded as a rare disease, it is now becoming clear that many kindreds exist worldwide. Current knowledge and hypotheses on the biology of TTR, mechanisms of TTR amyloid fibril formation, phenotypic consequences TTR amyloid deposition and pre-clinical models of the disease will be discussed.
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Keywords: Amyloidosis; cytotoxicity; familial amyloidotic polyneuropathy; fibrillogenesis; heat shock response; hereditary transthyretin (TTR); hypotheses; neurodegenerative diseases; plasma TTR protein; transthyretin (TTR)

Document Type: Research Article

Affiliations: Neurobiologia Molecular, Instituto de Biologia Molecular e Celular, R Campo Alegre, 823, 4150, Porto, Portugal.

Publication date: 2012-05-01

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