Hereditary transthyretin amyloidosis: molecular basis and therapeutical strategies.

Abstract:

: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.

journal_name

Expert Rev Mol Med

authors

Saraiva MJ

doi

10.1017/S1462399402004647

keywords:

subject

Has Abstract

pub_date

2002-05-14 00:00:00

pages

1-11

issue

12

issn

1462-3994

pii

S1462399402004647

journal_volume

4

pub_type

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