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TRANSTHYRETIN AND HEREDITARY AMYLOID NEUROPATHY

TRANSTHYRETIN AND HEREDITARY AMYLOID NEUROPATHY
甲状腺素运载蛋白和遗传性淀粉样神经病
批准号:
3410397
负责人:
MARIA J SARAIVA
金额:
$3.95万
依托单位国家:
美国
项目类别:
财政年份:
1987
资助国家:
美国
项目状态:
已结题
起止时间:
1987-09-15 至 1990-08-31

项目摘要

项目成果

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中文摘要
翻译
提出了一个详细的研究方案
英文摘要
A research program is proposed to investigate in detail the pathogenic mechanisms underlying the Portuguese type of familial amyloidotic polyneuropathy (FAP). This investigation also aims to acquire fundamental new information on the function of transthyretin (TTR) in the nervous system. The results should be relevant for the physiology of the nervous system and provide suggestions for future therapeutic approaches to FAP. Two major projects are proposed. Project One, on the intervening factors in the mechanisms of pathogenesis of FAP, aims to explore the influence of the mutant TTR found in FAP in the etiology of the disease. Studies are proposed to produce a specific monoclonal antibody directed at the mutant TTR and to develop an accurate immunoassay to measure the levels of the mutant TTR in biological specimens. This immunoassay would then be used in a variety of clinical studies to obtain new information about the pathophysiology and pathogenesis of FAP. A large and unique population of patients and carriers of the mutant gene is available in Portugal for these studies. Other studies will aim to localize the mutant TTR in tissues, and to search for DNA polymorphisnes in or adjacent to the TTR gene associated with variations in clinical expression of FAP. The general goal of Project Two is to explore in detail the function and metabolism of TTR in the nervous system. Studies are proposed that aim to: (1) quantitate TTR in the peripheral nerve; (2) explore the distribution and metabolism of TTR in the nervous system (in particular to explore the transfer of TTR from CSF to nerve, and the tissue sites of catabolism of CSF-derived TTR); (3) search for the binding of TTR to components of peripheral nerves; and (4) search for binding of TTR to specific binding sites/receptors of intact.
期刊论文(11)
专著(0)
科研奖励(0)
会议论文
A new transthyretin mutation associated with amyloid cardiomyopathy.
与淀粉样心肌病相关的新的转甲状腺素蛋白突变。
DOI: --
发表时间: 1992
期刊: American journal of human genetics
影响因子: 9.8
作者: [Saraiva,MJ, Almeida,MdoR, Sherman,W, Gawinowicz,M, Costa,P, Costa,PP, Goodman,DS]
通讯作者: Goodman,DS
Prenatal diagnosis of familial amyloidotic polyneuropathy: evidence for an early expression of the associated transthyretin methionine 30.
家族性淀粉样变性多发性神经病的产前诊断:相关转甲状腺素蛋白蛋氨酸 30 早期表达的证据。
DOI: 10.1007/bf00193586
发表时间: 1990
期刊: Human genetics
影响因子: 5.3
作者: [Almeida,MR, Alves,IL, Sakaki,Y, Costa,PP, Saraiva,MJ]
通讯作者: Saraiva,MJ
Molecular Analyses ofan Acidic Transthyretin Asn90Variant
酸性运甲状腺素蛋白 Asn90 变体的分子分析
DOI: --
发表时间: 1991
期刊:
影响因子: --
作者: [M. Saraiva, M. Almeida, TIsabel LongoAlves, A. Moreira, M. Gawinowicz, P. Costa, S. Rauh, A. Banhzoff]
通讯作者: A. Banhzoff
A new mutation causing familial amyloidotic polyneuropathy.
导致家族性淀粉样多发性神经病的新突变。
DOI: 10.1016/0006-291x(89)91802-0
发表时间: 1989
期刊: Biochemical and biophysical research communications
影响因子: 3.1
作者: [Skare,JC, Saraiva,MJ, Alves,IL, Skare,IB, Milunsky,A, Cohen,AS, Skinner,M]
通讯作者: Skinner,M
共 8 条
    TRANSTHYRETIN AND HEREDITARY AMYLOID NEUROPATHY
    TRANSTHYRETIN AND HEREDITARY AMYLOID NEUROPATHY
    海外基金