The MNB/DYRK1A protein kinase: neurobiological functions and Down syndrome implications.

The MNB/DYRK1A protein kinase: neurobiological functions and Down syndrome implications.
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MNB/DYRK1A 蛋白激酶:神经生物学功能和唐氏综合症的影响。

DOI:
10.1007/978-3-7091-6721-2_11
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发表时间:
2003
期刊:
Journal of neural transmission. Supplementum
影响因子:
--
通讯作者:
F. Tejedor
F. Tejedor
中科院分区:
--
文献类型:
--
作者:
B. Hämmerle;C. Elizalde;Juan Galceran;W. Becker;F. Tejedor

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近年来,人们主要关注隐藏在人类21号染色体所谓的唐氏综合症临界区内的基因。其中,由于唐氏综合症患者存在大量的神经生物学变化和认知缺陷,那些可能具有大脑功能的基因正成为密集研究的重点。MNB/DYRK1A就是这些基因之一。它编码一种具有独特遗传和生化特性的蛋白激酶,这些特性从昆虫到人类在进化上都是保守的。MNB/DYRK1A在发育中的大脑中表达,似乎在神经前体细胞的增殖、神经发生和神经元分化中发挥作用。虽然MNB/DYRK1A在较低水平上也在成人脑中表达,但根据突变和转基因动物的表型判断,它可能参与学习和记忆。然而,这些功能背后的大多数分子机制仍有待解开。在这篇综述中,我们汇编和讨论了支持MNB/DYRK1A参与唐氏综合征的几种神经病理和认知缺陷的实验证据。
Major attention is being paid in recent years to the genes harbored within the so called Down syndrome Critical Region of human chromosome 21. Among them, those genes with a possible brain function are becoming the focus of intense research due to the numerous neurobiological alterations and cognitive deficits that Down syndrome individuals have. MNB/DYRK1A is one of these genes. It encodes a protein kinase with unique genetic and biochemical properties, which have been evolutionarily conserved from insects to humans. MNB/DYRK1A is expressed in the developing brain where it seems to play a role in proliferation of neural progenitor cells, neurogenesis, and neuronal differentiation. Although at a lower level, MNB/DYRK1A is also expressed in the adult brain where, as judged by the phenotype of mutant and transgenic animals, it may be involved in learning and memory. Nevertheless, most of the molecular mechanisms underlying these functions remain to be unraveled. In this review we compile and discuss experimental evidences, which support the involvement of MNB/DYRK1A in several neuropathologies and cognitive deficits of Down syndrome.
DOI: 10.1093/hmg/5.9.1305
发表时间: 1996-09-01
影响因子: 3.5
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Guimera, J;Casas, C;Pritchard, MA
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发表时间: 2003
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影响因子: 3.3
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