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Current Medicinal Chemistry

Editor-in-Chief

ISSN (Print): 0929-8673
ISSN (Online): 1875-533X

Transthyretin Deposition in Familial Amyloidotic Polyneuropathy

Author(s): M. J. Saraiva, J. Magalhaes, N. Ferreira, M. R. Almeida

Volume 19, Issue 15, 2012

Page: [2304 - 2311] Pages: 8

DOI: 10.2174/092986712800269236

Price: $65

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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, fibrillogenesis, familial amyloidotic polyneuropathy, heat shock response, transthyretin (TTR), neurodegenerative diseases, hereditary transthyretin (TTR), plasma TTR protein, hypotheses


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