Accelerated A Deposition in APPswe/PS1 E9 Mice with Hemizygous Deletions of TTR (Transthyretin)

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Treatment of transthyretin (TTR) amyloid cardiomyopathy with an antisense oligonucleotide inhibitor of TTR synthesis

Background While transthyretin (TTR) amyloidosis is usually characterized by peripheral and autonomic neuropathy, a majority of patients also have evidence of restrictive cardiomyopathy. In addition, amyloid cardiomyopathy may occur in the elderly without the presence of a mutant form of TTR. Both the hereditary and wild-type TTR amyloidosis are characterized by progressive restrictive cardiomy...

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Transthyretin familial amyloid polyneuropathy (TTR‐FAP): Parameters for early diagnosis

Background Familial transthyretin amyloidosis is a life-threatening disease presenting with sensorimotor and autonomic polyneuropathy. Delayed diagnosis has a detrimental effect on treatment and prognosis. To facilitate diagnosis, we analyzed data patterns of patients with transthyretin familial amyloid polyneuropathy (TTR-FAP) and compared them to polyneuropathies of different etiology for cli...

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Uptake of Aggregating Transthyretin by Fat Body in a Drosophila Model for TTR-Associated Amyloidosis

BACKGROUND A functional link has been established between the severe neurodegenerative disorder Familial amyloidotic polyneuropathy and the enhanced propensity of the plasma protein transthyretin (TTR) to form aggregates in patients with single point mutations in the TTR gene. Previous work has led to the establishment of an experimental model based on transgenic expression of normal or mutant ...

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The prevalence and distribution of the amyloidogenic transthyretin (TTR) V122I allele in Africa

BACKGROUND Transthyretin (TTR) pV142I (rs76992529-A) is one of the 113 variants in the human TTR gene associated with systemic amyloidosis. It results from a G to A transition at a CG dinucleotide in the codon for amino acid 122 of the mature protein (TTR V122I). The allele frequency is 0.0173 in African Americans. METHODS PCR-based assays to genotype 2767 DNA samples obtained from participan...

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ژورنال

عنوان ژورنال: Journal of Neuroscience

سال: 2007

ISSN: 0270-6474,1529-2401

DOI: 10.1523/jneurosci.1919-07.2007