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共济失调毛细血管扩张症突变基因在小脑完整性和功能中起重要作用。

Ataxia-telangiectasia mutated plays an important role in cerebellar integrity and functionality.

作者信息

Mitiagin Yulia, Barzilai Ari

机构信息

Department of Neurobiology, the School of Neurobiology, Biophysics, Molecular Biology and Biochemistry, George S. Wise, Faculty of Life Sciences, Tel Aviv University, Tel Aviv, Israel.

Sagol School of Neurosciences, Tel Aviv University, Tel Aviv, Israel.

出版信息

Neural Regen Res. 2023 Mar;18(3):497-502. doi: 10.4103/1673-5374.350194.

Abstract

Accumulating evidence indicates that ataxia-telangiectasia mutated kinase is critical for maintaining cellular homeostasis and that it has both nuclear and cytoplasmic functions. However, the functions of ataxia-telangiectasia mutated that when lost lead to cerebellar degeneration are still unknown. In this review, we first describe the role of ataxia-telangiectasia mutated in cerebellar pathology. In addition to its canonical nuclear functions in DNA damage response circuits, ataxia-telangiectasia mutated functions in various cytoplasmic and mitochondrial processes that are critically important for cellular homeostasis. We discuss these functions with a focus on the role of ataxia-telangiectasia mutated in maintaining the homeostatic redox state. Finally, we describe the unique functions of ataxia-telangiectasia mutated in various types of neuronal and glial cells including cerebellar granule neurons, astrocytes, and microglial cells.

摘要

越来越多的证据表明,共济失调毛细血管扩张症突变激酶对于维持细胞内稳态至关重要,并且它具有细胞核和细胞质功能。然而,共济失调毛细血管扩张症突变基因丧失后导致小脑变性的功能仍不清楚。在这篇综述中,我们首先描述共济失调毛细血管扩张症突变基因在小脑病理学中的作用。除了其在DNA损伤反应通路中的典型核功能外,共济失调毛细血管扩张症突变基因还在各种对细胞内稳态至关重要的细胞质和线粒体过程中发挥作用。我们将重点讨论共济失调毛细血管扩张症突变基因在维持氧化还原稳态中的作用。最后,我们描述了共济失调毛细血管扩张症突变基因在包括小脑颗粒神经元、星形胶质细胞和小胶质细胞在内的各种神经元和神经胶质细胞类型中的独特功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/dfb6/9727460/71e7eb4f066c/NRR-18-497-g001.jpg

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