The Function of the NBAS Has Been Revealed, Will the Same Happen with Its Multisystem Pathologies?
- 作者: Zhozhikov L.1, Vasilev F.1, Maksimova N.1
-
隶属关系:
- Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine
- 期: 卷 59, 编号 4 (2023)
- 页面: 371-380
- 栏目: ОБЗОРНЫЕ И ТЕОРЕТИЧЕСКИЕ СТАТЬИ
- URL: https://journals.rcsi.science/0016-6758/article/view/134573
- DOI: https://doi.org/10.31857/S0016675823040124
- EDN: https://elibrary.ru/AYGTUB
- ID: 134573
如何引用文章
详细
Mutations in the NBAS gene cause two groups of diseases – SOPH-syndrome and Infantile liver failure syndrome type 2 (ILFS2, RALF), which differ in clinical manifestations, course, and prognosis. In the current review we focused on clinical and genetic aspects of these pathologies and molecular biology of the NBAS protein, its retrograde membrane traffic and nonsense-mediated RNA decay.
作者简介
L. Zhozhikov
Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine
编辑信件的主要联系方式.
Email: leonid.zhozhikov@gmail.com
Russia, 677013, Yakutsk
F. Vasilev
Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine
Email: leonid.zhozhikov@gmail.com
Russia, 677013, Yakutsk
N. Maksimova
Ammosov North-Eastern Federal University in Yakutsk, Institute of Medicine
Email: leonid.zhozhikov@gmail.com
Russia, 677013, Yakutsk
参考
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