肌动蛋白在毛细胞和听力损失中的作用。
Actin in hair cells and hearing loss.
机构信息
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rockville, MD 20850, USA.
出版信息
Hear Res. 2012 Jun;288(1-2):89-99. doi: 10.1016/j.heares.2011.12.003. Epub 2011 Dec 13.
Abstract
Hereditary deafness is genetically heterogeneous such that mutations of many different genes can cause hearing loss. This review focuses on the evidence and implications that several of these deafness genes encode actin-interacting proteins or actin itself. There is a growing appreciation of the contribution of the actin interactome in stereocilia development, maintenance, mechanotransduction and malfunction of the auditory system.
摘要
遗传性耳聋具有遗传异质性，许多不同的基因突变都可导致听力损失。本文主要综述了几种耳聋基因编码肌动蛋白相互作用蛋白或肌动蛋白本身的证据和意义。人们越来越认识到肌动蛋白相互作用组在.stereocilia 发育、维持、机械转导和听觉系统功能障碍中的作用。
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本文引用的文献
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Multi-isotope imaging mass spectrometry reveals slow protein turnover in hair-cell stereocilia.多同位素成像质谱法揭示了毛细胞静纤毛中缓慢的蛋白质周转。
Nature. 2012 Jan 15;481(7382):520-4. doi: 10.1038/nature10745.
2
Nuclear actin and myosins: life without filaments.核肌动蛋白和肌球蛋白：无丝分裂的生命。
Nat Cell Biol. 2011 Nov 2;13(11):1282-8. doi: 10.1038/ncb2364.
3
β-Actin specifically controls cell growth, migration, and the G-actin pool.β-肌动蛋白特异性地控制细胞生长、迁移和 G-肌动蛋白池。
Mol Biol Cell. 2011 Nov;22(21):4047-58. doi: 10.1091/mbc.E11-06-0582. Epub 2011 Sep 7.
4
Myosin VIIa and sans localization at stereocilia upper tip-link density implicates these Usher syndrome proteins in mechanotransduction.肌球蛋白 VIIa 和 sans 在上部静纤毛顶链接密度中的定位提示这些常染色体隐性遗传性耳聋综合征蛋白参与机械转导。
Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11476-81. doi: 10.1073/pnas.1104161108. Epub 2011 Jun 27.
5
Life at the leading edge.生命的前沿。
Cell. 2011 Jun 24;145(7):1012-22. doi: 10.1016/j.cell.2011.06.010.
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