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Transthyretin Deposition in Familial Amyloidotic Polyneuropathy

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Abstract:

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.

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

DOI: http://dx.doi.org/10.2174/092986712800269236

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

Publication date: May 1, 2012

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  • Current Medicinal Chemistry covers all the latest and outstanding developments in medicinal chemistry and rational drug design. Each issue contains a series of timely in-depth reviews written by leaders in the field covering a range of the current topics in medicinal chemistry. Current Medicinal Chemistry is an essential journal for every medicinal chemist who wishes to be kept informed and up-to-date with the latest and most important developments.

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