One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology.
One level up: abnormal proteolytic regulation of IGF activity plays a role in human pathophysiology.
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DOI：
10.15252/emmm.201707950
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发表时间：
2017-10
影响因子：
11.1
通讯作者：
Oxvig C
中科院分区：
文献类型：
--
作者：
Argente J;Chowen JA;Pérez-Jurado LA;Frystyk J;Oxvig C
特定基因突变的发现对于确定患者疾病的病理生理学非常重要，也可能有助于确定个体基础上的最佳治疗方案。然而，有时新蛋白质突变的发现以更广泛的方式推进了我们的理解。生长激素(GH)/胰岛素样生长因子(IGF) - 1轴是全身生长的基础，但也参与许多其他重要过程。我们对这一系统在生理学和病理生理学上的理解随着这一轴成员的每一次突变的发现而不断进步。本文综述了最新的发现：在延迟生长衰竭患者中，金属蛋白酶妊娠相关血浆蛋白A2 （PAPP‐A2）突变，这是一种参与将IGF‐1从其循环的复合物中释放出来的蛋白酶。我们还讨论了斯坦钙素（STC1和STC2），调节PAPP‐A2和PAPP‐A的蛋白质的进展。这些新进展不仅使我们更接近于理解这个轴在系统生长和成熟中严格的时空控制，而且当这个系统出错时，也突出了可能的治疗靶点。
The discovery of a mutation in a specific gene can be very important for determining the pathophysiology underlying the disease of a patient and may also help to decide the best treatment protocol on an individual basis. However, sometimes the discovery of mutations in new proteins advances our comprehension in a more widespread manner. The growth hormone (GH)/insulin‐like growth factor (IGF)‐1 axis is fundamental for systemic growth, but is also involved in many other important processes. Our understanding of this system in physiology and pathophysiology has advanced throughout the years with each discovery of mutations in members of this axis. This review focuses on the most recent discovery: mutations in the metalloproteinase pregnancy‐associated plasma protein‐A2 (PAPP‐A2), one of the proteases involved in liberating IGF‐1 from the complexes in which it circulates, in patients with delayed growth failure. We also discuss the advances in the stanniocalcins (STC1 and STC2), proteins that modulate PAPP‐A2, as well as PAPP‐A. These new advances not only bring us one step closer to understanding the strict spatial and temporal control of this axis in systemic growth and maturation, but also highlight possible therapeutic targets when this system goes awry.
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影响因子：
4.8
作者：
Conover, Cheryl A.;Boldt, Henning B.;Powell, David R.
通讯作者：
Powell, David R.
影响因子：
3.5
作者：
Laursen, LS;Overgaard, MT;Oxvig, C
通讯作者：
Oxvig, C
影响因子：
158.5
作者：
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通讯作者：
Rosenfeld, RG
DOI：
10.1152/ajpendo.00268.2004
发表时间：
2005-01-01
影响因子：
5.1
作者：
Gagliardi, AD;Kuo, EYW;DiMattia, GE
通讯作者：
DiMattia, GE
影响因子：
4.1
作者：
Boldt, HB;Overgaard, MT;Oxvig, C
通讯作者：
Oxvig, C