Telomere-associated aging disorders.
Telomere-associated aging disorders.
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DOI：
10.1016/j.arr.2016.05.009
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发表时间：
2017-01
影响因子：
13.1
通讯作者：
中科院分区：
文献类型：
--
作者：
端粒是一种动态的核蛋白-DNA结构，可以保护线性染色体末端。几种表现出人类过早衰老特征的单基因遗传性疾病与缩短的端粒相关，并且统称为端粒病。这些疾病具有重叠的症状和端粒功能障碍的共同潜在机制，但也表现出不同的症状和发病年龄，表明它们属于沿着一系列疾病。原发性端粒病变是由端粒维持机制的缺陷引起的，而继发性端粒病变与原发性端粒病变有一些重叠的症状，但通常是由有助于端粒保存的DNA修复蛋白的突变引起的。在这里，我们回顾原发性和继发性端粒病变，讨论组织特异性和发病年龄的潜在机制，并强调在该领域的突出问题和未来的方向，阐明疾病的病因和发展的治疗策略。
Telomeres are dynamic nucleoprotein-DNA structures that cap and protect linear chromosome ends. Several monogenic inherited diseases that display features of human premature aging correlate with shortened telomeres, and are referred to collectively as telomeropathies. These disorders have overlapping symptoms and a common underlying mechanism of telomere dysfunction, but also exhibit variable symptoms and age of onset, suggesting they fall along a spectrum of disorders. Primary telomeropathies are caused by defects in the telomere maintenance machinery, whereas secondary telomeropathies have some overlapping symptoms with primary telomeropathies, but are generally caused by mutations in DNA repair proteins that contribute to telomere preservation. Here we review both the primary and secondary telomeropathies, discuss potential mechanisms for tissue specificity and age of onset, and highlight outstanding questions in the field and future directions toward elucidating disease etiology and developing therapeutic strategies.
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影响因子：
4.5
作者：
Ballew BJ;Joseph V;De S;Sarek G;Vannier JB;Stracker T;Schrader KA;Small TN;O'Reilly R;Manschreck C;Harlan Fleischut MM;Zhang L;Sullivan J;Stratton K;Yeager M;Jacobs K;Giri N;Alter BP;Boland J;Burdett L;Offit K;Boulton SJ;Savage SA;Petrini JH
通讯作者：
Petrini JH
DOI：
10.1038/nrg3246
发表时间：
2012-10
期刊：
Nature reviews. Genetics
影响因子：
--
作者：
通讯作者：
--
DOI：
10.3109/10409231003786086
发表时间：
2010-06
影响因子：
6.5
作者：
Capp C;Wu J;Hsieh TS
通讯作者：
Hsieh TS
影响因子：
13.5
作者：
Carulli, Lucia;Dei Cas, Alessandra;Nascimbeni, Fabio
通讯作者：
Nascimbeni, Fabio
影响因子：
56.9
作者：
Bodnar, AG;Ouellette, M;Wright, WE
通讯作者：
Wright, WE