What cerebellar malformations tell us about cerebellar development.
What cerebellar malformations tell us about cerebellar development.
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DOI：
10.1016/j.neulet.2018.05.032
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发表时间：
2019-01-01
影响因子：
2.5
通讯作者：
Millen KJ
中科院分区：
文献类型：
--
作者：
Haldipur P;Millen KJ
小脑的结构性出生缺陷，或小脑畸形，在人类中，早已被认识到。然而，直到最近，在阐明其发育发病机制方面进展甚微。在过去的20年里，脑成像和人类遗传技术的创新已经导致了这些疾病的更好分类和几个致病基因的鉴定。相比之下，模型生物（特别是小鼠）的小脑畸形一直是70多年来深入研究的焦点。因此，许多驱动小脑形成的分子、遗传和细胞程序已经在小鼠中被描绘出来。在这篇综述中，我们概述了建立小鼠小脑结构的发育程序的基本时期和关键分子调控因子。这种以小鼠为中心的方法对解释人类小脑畸形的发育发病机制是有用的。然而，越来越明显的是，除了从老鼠身上推断出来的，我们实际上对人类小脑发育的细节知之甚少。更好地了解人类小脑发育不仅有助于改善人类小脑畸形的诊断，而且还导致这些重要的神经发育障碍的治疗模式的发展。
Structural birth defects of the cerebellum, or cerebellar malformations, in humans, have long been recognized. However, until recently there has been little progress in elucidating their developmental pathogenesis. Innovations in brain imaging and human genetic technologies over the last 2 decades have led to better classifications of these disorders and identification of several causative genes. In contrast, cerebellar malformations in model organisms, particularly mice, have been the focus of intense study for more than 70 years. As a result, many of the molecular, genetic and cellular programs that drive formation of the cerebellum have been delineated in mice. In this review, we overview the basic epochs and key molecular regulators of the developmental programs that build the structure of the mouse cerebellum. This mouse-centric approach has been a useful to interpret the developmental pathogenesis of human cerebellar malformations. However, it is becoming apparent that we actually know very little regarding the specifics of human cerebellar development beyond what is inferred from mice. A better understanding of human cerebellar development will not only facilitate improved diagnosis of human cerebellar malformations, but also lead to the development of treatment paradigms for these important neurodevelopmental disorders.
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影响因子：
30.8
作者：
Aldinger, Kimberly A.;Lehmann, Ordan J.;Hudgins, Louanne;Chizhikov, Victor V.;Bassuk, Alexander G.;Ades, Lesley C.;Krantz, Ian D.;Dobyns, William B.;Millen, Kathleen J.
通讯作者：
Millen, Kathleen J.
影响因子：
23.9
作者：
Bershteyn M;Nowakowski TJ;Pollen AA;Di Lullo E;Nene A;Wynshaw-Boris A;Kriegstein AR
通讯作者：
Kriegstein AR
影响因子：
3
作者：
Bernardo, Silvia;Vinci, Valeria;Manganaro, Lucia
通讯作者：
Manganaro, Lucia
影响因子：
1.5
作者：
FALCONER, DS
通讯作者：
FALCONER, DS
影响因子：
4.6
作者：
Blank, Marissa C.;Grinberg, Inessa;Millen, Kathleen J.
通讯作者：
Millen, Kathleen J.