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1 results

  • Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies

  • Maria João Mascarenhas Saraiva
  • Journal:
    Expert Reviews in Molecular Medicine / Volume 4 / Issue 12 / 14 May 2002
    Published online by Cambridge University Press:
    13 February 2004, pp. 1-11

  • Transthyretin (TTR) is a transport protein for thyroid hormones and vitamin A and might have an important role in the nervous system. However, TTR can undergo a conformational change and form amyloid fibrils, in both acquired and hereditary forms of systemic amyloidosis. More than 80 TTR mutations have been associated with autosomal dominant amyloidosis, usually presenting with peripheral and autonomic neuropathy and/or cardiomyopathy. Major areas of research in TTR amyloidosis include: molecular mechanisms leading to fibril formation; mechanisms of fibril-induced cell death; modulators of phenotypic expression of the disease; and therapeutic strategies.